ClinVar Miner

List of variants in gene COCH, LOC100506071 studied for Deafness, autosomal dominant 9

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP
NM_004086.3(COCH):c.*10T>A rs886050443
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644
NM_004086.3(COCH):c.108C>T (p.Thr36=)
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967
NM_004086.3(COCH):c.126G>A (p.Arg42=)
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe)
NM_004086.3(COCH):c.1477+9C>A rs17097458
NM_004086.3(COCH):c.1478-10T>C rs371990593
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) rs121908934
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468
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.239+5G>A rs563163157
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) rs121908928
NM_004086.3(COCH):c.266C>A (p.Pro89His)
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330
NM_004086.3(COCH):c.293G>A (p.Arg98Gln)
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn)
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004086.3(COCH):c.329A>G (p.Gln110Arg)
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.429A>G (p.Pro143=) rs147841606
NM_004086.3(COCH):c.615C>T (p.Gly205=)
NM_004086.3(COCH):c.629+5C>T rs202109231
NM_004086.3(COCH):c.630-9T>C rs368182881
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004086.3(COCH):c.961-8C>T rs753785426
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.