ClinVar Miner

List of variants in gene SGSH studied for not provided

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Total variants: 64
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HGVS dbSNP
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757
NM_000199.5(SGSH):c.1135G>A (p.Val379Met) rs541847913
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1221C>T (p.Thr407=) rs1598738043
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109
NM_000199.5(SGSH):c.1448C>T (p.Pro483Leu) rs1598736884
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro) rs398123245
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.249+25G>T rs200104349
NM_000199.5(SGSH):c.250-26C>T rs4889839
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu) rs777669364
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys) rs755846091
NM_000199.5(SGSH):c.356-2A>G rs1057517927
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.42C>T (p.Val14=) rs1598772270
NM_000199.5(SGSH):c.564C>T (p.Pro188=) rs1378805024
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.664-10C>T rs776319554
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.684C>T (p.Asn228=) rs562717448
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser) rs773480617
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.78GCT[3] (p.Leu29dup) rs786200990
NM_000199.5(SGSH):c.816C>T (p.Ser272=) rs200485062
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys) rs541222703
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.88+23C>G rs77032342
NM_000199.5(SGSH):c.888G>A (p.Val296=) rs1598742505
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000199.5(SGSH):c.950-65C>T
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246

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