ClinVar Miner

List of variants in gene GSDME studied for autosomal dominant nonsyndromic hearing loss 5

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.212-30G>A rs2521768 0.59590
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_001127453.2(GSDME):c.863-37C>T rs2721809 0.55124
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.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_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
NG_011593.1:g.55397_56585delins59701_59837invGCCCA
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.1089_1113dup (p.Pro372fs)
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu) rs2128047712
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
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.1274ATG[1] (p.Asp426del) rs374353052
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.1441C>A (p.Leu481Ile)
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg) rs865905505
NM_001127453.2(GSDME):c.314dup (p.Ser106fs) rs755613828
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.725G>A (p.Gly242Asp)
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
NM_001127453.2(GSDME):c.939C>T (p.Ile313=) rs556679282
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_004403.3(GSDME):c.1183+4A>G rs1562687295
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter) rs200205042
NM_004403.3(GSDME):c.991-6C>G rs1562687726

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