ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs) rs764178233
NM_002700.3(POU4F3):c.960del (p.Trp321fs)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_005422.4(TECTA):c.3156G>T (p.Trp1052Cys)

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