ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nonsyndromic hearing loss 6 by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895 0.00001
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) rs104893882
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205

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