ClinVar Miner

List of variants in gene GJB2 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943

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