ClinVar Miner

List of variants studied 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: 43
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HGVS dbSNP gnomAD frequency
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_004086.3(COCH):c.*27A>T rs13122 0.24742
NM_004086.3(COCH):c.1477+9C>A rs17097458 0.05034
NM_004086.3(COCH):c.*407C>T rs7152503 0.02116
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468 0.00602
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_004086.3(COCH):c.*814G>A rs543797568 0.00198
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00173
NM_004086.3(COCH):c.*625T>C rs143467211 0.00149
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_004086.3(COCH):c.*245G>A rs45624239 0.00127
NM_004086.3(COCH):c.*339T>C rs187461561 0.00113
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_004086.3(COCH):c.*237G>C rs190142757 0.00035
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
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.1436A>T (p.Tyr479Phe) rs757904271 0.00003
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.630-9T>C rs368182881 0.00002
NM_004086.3(COCH):c.*275C>T rs886050445 0.00001
NM_004086.3(COCH):c.*39G>T rs555882283 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.239+5G>A rs563163157 0.00001
NM_004086.3(COCH):c.615C>T (p.Gly205=) rs548387738 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.*612G>T rs541766600
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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