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_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)
CA5546544
422345 (ClinVar)
Gene: CDH23
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal recessive inheritance
UUID: 51c7fb5b-8d92-4c34-998f-609fa5ed21b3
HGVS expressions
NM_022124.6:c.8083G>A
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn)
NC_000010.11:g.71806186G>A
CM000672.2:g.71806186G>A
NC_000010.10:g.73565943G>A
CM000672.1:g.73565943G>A
NC_000010.9:g.73235949G>A
NG_008835.1:g.414240G>A
ENST00000224721.12:c.8083G>A
ENST00000642965.1:c.2016G>A
ENST00000647092.1:c.1680G>A
ENST00000224721.10:c.8098G>A
ENST00000398788.4:c.1363G>A
ENST00000475158.1:n.1619G>A
ENST00000619887.4:c.1363G>A
ENST00000622827.4:c.8083G>A
NM_001171933.1:c.1363G>A
NM_001171934.1:c.1363G>A
NM_022124.5:c.8083G>A
Evidence submitted by expert panel
Approved on: 2023-06-26
Published on: 2023-10-05
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