ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nonsyndromic hearing loss 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NG_011593.1:g.55397_56585delins59701_59837invGCCCA
NM_001127453.2(GSDME):c.1089_1113dup (p.Pro372fs)
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu) rs2128047712
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_004403.3(GSDME):c.1183+4A>G rs1562687295
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter) rs200205042
NM_004403.3(GSDME):c.991-6C>G rs1562687726

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