ClinVar Miner

List of variants reported as uncertain significance for Tay-Sachs disease by Counsyl

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_000520.5(HEXA):c.134A>C (p.Gln45Pro) rs144089645
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.*12C>T rs532797279
NM_000520.6(HEXA):c.-1dup (p.Met1fs) rs1555475553
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) rs1555472604
NM_000520.6(HEXA):c.1008G>C (p.Gln336His) rs1555472602
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly) rs1555475512
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) rs759157781
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) rs1555472429
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) rs749368995
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1571del (p.Gln524fs) rs1555472158
NM_000520.6(HEXA):c.1578del (p.Phe526fs) rs1555472157
NM_000520.6(HEXA):c.211C>G (p.Leu71Val) rs775000497
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.346+2dup rs1430416918
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) rs1273494297
NM_000520.6(HEXA):c.446_448CTG[1] (p.Ala150del) rs1555473140
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) rs781493030
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) rs121907959
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) rs1555472696

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