ClinVar Miner

List of variants in gene COCH, LOC100506071 studied for auditory system disorder

Included ClinVar conditions (325):
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Gene type:
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Total variants: 49
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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.1477+9C>A rs17097458 0.05034
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.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00173
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
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.272G>A (p.Arg91Gln) rs188283330 0.00031
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.1150C>T (p.Arg384Cys) rs756541797 0.00006
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.292C>T (p.Arg98Ter) rs756790858 0.00003
NM_004086.3(COCH):c.271C>T (p.Arg91Ter) rs540895576 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.108C>T (p.Thr36=) rs372237012 0.00001
NM_004086.3(COCH):c.1163A>G (p.Glu388Gly) rs1703098416 0.00001
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) rs121908934 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_004086.3(COCH):c.538C>T (p.Arg180Ter) rs559481815 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.1053C>A (p.Cys351Ter) rs1895773215
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.113G>A (p.Gly38Asp) rs1391189162
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004086.3(COCH):c.126G>A (p.Arg42=) rs146115619
NM_004086.3(COCH):c.1423G>C (p.Asp475His) rs2138878739
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) rs121908932
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.197T>G (p.Val66Gly) rs121908927
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) rs121908928
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn) rs1895469264
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004086.3(COCH):c.329A>G (p.Gln110Arg) rs1281507766
NM_004086.3(COCH):c.341T>C (p.Leu114Pro) rs2138844314
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) rs121908929
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887
NM_004086.3(COCH):c.984_985dup (p.Phe329fs) rs1895769400

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