ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 9 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004086.3(COCH):c.*432T>C rs867385285 0.00013
NM_004086.3(COCH):c.266C>A (p.Pro89His) rs149903169 0.00009
NM_004086.3(COCH):c.961-8C>T rs753785426 0.00008
NM_004086.3(COCH):c.*342A>T rs913851990 0.00006
NM_004086.3(COCH):c.*358G>A rs774390888 0.00005
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004086.3(COCH):c.1478-10T>C rs371990593 0.00003
NM_004086.3(COCH):c.-10A>G rs200113981 0.00002
NM_004086.3(COCH):c.293G>A (p.Arg98Gln) rs764704351 0.00002
NM_004086.3(COCH):c.*275C>T rs886050445 0.00001
NM_004086.3(COCH):c.*58A>G rs886050444 0.00001
NM_004086.3(COCH):c.108C>T (p.Thr36=) rs372237012 0.00001
NM_004086.3(COCH):c.*10T>A rs886050443
NM_004086.3(COCH):c.*377T>C rs1895934392
NM_004086.3(COCH):c.*568A>C rs978000615
NM_004086.3(COCH):c.126G>A (p.Arg42=) rs146115619
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn) rs1895469264
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887

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