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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Variant: NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
CA342005
21389 (ClinVar)
Gene: GJB2
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: bd25523c-7613-4d08-9a6e-9cbcc2a5eb4b
Approved on: 2024-01-03
Published on: 2024-01-03
HGVS expressions
NM_004004.6:c.56G>C
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
NC_000013.11:g.20189526C>G
CM000675.2:g.20189526C>G
NC_000013.10:g.20763665C>G
CM000675.1:g.20763665C>G
NC_000013.9:g.19661665C>G
NG_008358.1:g.8450G>C
ENST00000382844.2:c.56G>C
ENST00000382848.5:c.56G>C
ENST00000382844.1:c.56G>C
ENST00000382848.4:c.56G>C
NM_004004.5:c.56G>C
Evidence submitted by expert panel
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