The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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CA891862634
Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: c7b4b798-e2b4-431a-bd0d-2d7c903d2c57
Approved on: 2019-02-26
Published on: 2019-08-16
HGVS expressions
NM_000277.1:c.47_48insCT
NC_000012.12:g.102917083_102917084insAG
CM000674.2:g.102917083_102917084insAG
NC_000012.11:g.103310861_103310862insAG
CM000674.1:g.103310861_103310862insAG
NC_000012.10:g.101834991_101834992insAG
NG_008690.1:g.5519_5520insCT
NG_008690.2:g.46327_46328insCT
NM_000277.2:c.47_48insCT
NM_001354304.1:c.47_48insCT
NM_000277.3:c.47_48insCT
ENST00000307000.7:c.-101_-100insCT
ENST00000546844.1:c.47_48insCT
ENST00000547319.1:n.358_359insCT
ENST00000549111.5:n.143_144insCT
ENST00000550978.6:n.31_32insCT
ENST00000551337.5:c.47_48insCT
ENST00000551988.5:n.136_137insCT
ENST00000553106.5:c.47_48insCT
ENST00000635500.1:n.29-4186_29-4185insCT
Evidence submitted by expert panel
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