ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 5

Included ClinVar conditions (1):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.*537C>T rs117584512 0.00086
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.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.1121C>T (p.Pro374Leu) rs142107866 0.00004
NM_001127453.2(GSDME):c.75G>T (p.Leu25=) rs767060533 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.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.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.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.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.685G>A (p.Asp229Asn) rs775179954
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
NM_004403.3(GSDME):c.-235C>T rs886062229

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