ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 5 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_001127453.2(GSDME):c.*481G>C rs12979 0.12626
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_001127453.2(GSDME):c.*527C>T rs6957782 0.07350
NM_001127453.2(GSDME):c.*273C>T rs17149888 0.07118
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_001127453.2(GSDME):c.*30C>T rs17274530 0.03910
NM_001127453.2(GSDME):c.*87A>G rs10266655 0.02589
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001127453.2(GSDME):c.*448T>C rs144061292 0.01358
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_001127453.2(GSDME):c.*321T>G rs573722628 0.00163
NM_001127453.2(GSDME):c.*72C>T rs115865539 0.00162
NM_001127453.2(GSDME):c.528C>T (p.Val176=) rs138741730 0.00105
NM_001127453.2(GSDME):c.*537C>T rs117584512 0.00086
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 0.00076
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001127453.2(GSDME):c.*346G>C rs144928530 0.00038
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001127453.2(GSDME):c.*24G>A rs199887441 0.00024
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661 0.00015
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) rs145754170 0.00009
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001127453.2(GSDME):c.576+13G>A rs367730024 0.00006
NM_001127453.2(GSDME):c.577-12T>G rs752065719 0.00006
NM_001127453.2(GSDME):c.*429T>C rs538502935 0.00005
NM_001127453.2(GSDME):c.584C>T (p.Ala195Val) rs534396774 0.00005
NM_001127453.2(GSDME):c.1121C>T (p.Pro374Leu) rs142107866 0.00004
NM_001127453.2(GSDME):c.75G>T (p.Leu25=) rs767060533 0.00004
NM_001127453.2(GSDME):c.906G>A (p.Leu302=) rs141596134 0.00004
NM_001127453.2(GSDME):c.1156G>A (p.Ala386Thr) rs371802634 0.00003
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) rs376564087 0.00003
NM_004403.3(GSDME):c.-216C>T rs886062228 0.00003
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) rs148449230 0.00002
NM_001127453.2(GSDME):c.480G>C (p.Gln160His) rs546120306 0.00002
NM_001127453.2(GSDME):c.1349G>A (p.Arg450His) rs764724618 0.00001
NM_001127453.2(GSDME):c.225G>A (p.Ser75=) rs191022542 0.00001
NM_001127453.2(GSDME):c.247A>G (p.Lys83Glu) rs777453610 0.00001
NM_001127453.2(GSDME):c.294G>A (p.Lys98=) rs1385224336 0.00001
NM_001127453.2(GSDME):c.430C>A (p.Leu144Ile) rs1562697643 0.00001
NM_001127453.2(GSDME):c.544G>A (p.Gly182Ser) rs745411723 0.00001
NM_001127453.2(GSDME):c.612C>T (p.Asp204=) rs551846110 0.00001
NM_001127453.2(GSDME):c.766G>A (p.Asp256Asn) rs763468767 0.00001
NM_001127453.2(GSDME):c.*239T>C rs1788738667
NM_001127453.2(GSDME):c.*260A>G rs886062223
NM_001127453.2(GSDME):c.*299A>G rs577672103
NM_001127453.2(GSDME):c.*326C>A rs554412975
NM_001127453.2(GSDME):c.*333T>G rs534617327
NM_001127453.2(GSDME):c.*583T>G rs886062222
NM_001127453.2(GSDME):c.*81T>G rs541774350
NM_001127453.2(GSDME):c.1016C>G (p.Ser339Trp) rs755785416
NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer) rs757421220
NM_001127453.2(GSDME):c.1253A>G (p.His418Arg) rs886062225
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys) rs151328414
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg) rs865905505
NM_001127453.2(GSDME):c.356G>A (p.Arg119Lys) rs1349632914
NM_001127453.2(GSDME):c.358A>C (p.Lys120Gln) rs886062227
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_001127453.2(GSDME):c.685G>A (p.Asp229Asn) rs775179954
NM_001127453.2(GSDME):c.939C>T (p.Ile313=) rs556679282
NM_004403.3(GSDME):c.-235C>T rs886062229

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.