ClinVar Miner

List of variants in gene HEXA reported as pathogenic for Tay-Sachs disease

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Gene type:
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Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00045
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00014
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00007
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00003
NM_000520.6(HEXA):c.459+24G>C rs377234974 0.00003
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00002
NM_000520.6(HEXA):c.1088dup (p.Ser364fs) rs1734738637 0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs) rs772879726 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) rs28940871 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.460-2A>G rs547177633 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=) rs1188885214 0.00001
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00001
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424 0.00001
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977 0.00001
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter) rs1567297439 0.00001
GRCh37/hg19 15q23(chr15:72662932-72670877)
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.10:g.72647900_72648958del
NC_000015.9:g.(72648959_72668060)_(72668815_?)del
NC_000015.9:g.(?_72636408)_(72636491_?)del
NC_000015.9:g.(?_72636418)_(72637911_?)del
NC_000015.9:g.(?_72637535)_(72639061_?)del
NC_000015.9:g.(?_72638556)_(72639071_?)del
NC_000015.9:g.(?_72638848)_(72639071_?)del
NC_000015.9:g.(?_72638867)_(72641658_?)del
NC_000015.9:g.(?_72640007)_(72648978_?)del
NC_000015.9:g.(?_72646063)_(72653091_?)del
NC_000015.9:g.(?_72662933)_72670877del
NC_000015.9:g.(?_72666801)_(72670977_?)del
NM_000520.6(HEXA):c.1014del (p.Phe338fs) rs2542520518
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter) rs2542520335
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer) rs2542520322
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter) rs779456035
NM_000520.6(HEXA):c.1073+1G>C rs76173977
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.107dup (p.Tyr37fs) rs2542582204
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs) rs2542518955
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter) rs2542582180
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) rs1057519464
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1147-1G>T rs2088620169
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs) rs2542514845
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) rs121907979
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) rs370266293
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.118del (p.Tyr40fs) rs2140344667
NM_000520.6(HEXA):c.1220del (p.Val407fs) rs2140320741
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs) rs2542514324
NM_000520.6(HEXA):c.1257dup (p.Trp420fs) rs2542514275
NM_000520.6(HEXA):c.1258del (p.Trp420fs) rs1216659000
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) rs1555472406
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter) rs2542514054
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1330+2T>C rs2140320568
NM_000520.6(HEXA):c.1338del (p.Glu447fs) rs2542512987
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1364del (p.Gly455fs) rs2542512849
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val) rs375019490
NM_000520.6(HEXA):c.1385A>T (p.Glu462Val) rs863225434
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter) rs1239101618
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) rs987921756
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1422-2A>G rs2542510037
NM_000520.6(HEXA):c.1429_1445del (p.Ala477fs) rs2140319638
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) rs1057519467
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter) rs121907952
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter) rs2140344619
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter) rs2140319619
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter) rs2542509635
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+1G>A rs1309204908
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter) rs2542505710
NM_000520.6(HEXA):c.1540del (p.Ala514fs)
NM_000520.6(HEXA):c.1543C>T (p.Gln515Ter)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.170dup (p.Cys58fs)
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.196del (p.Gln66fs) rs2542581524
NM_000520.6(HEXA):c.19del (p.Trp7fs) rs2542582814
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) rs1407480461
NM_000520.6(HEXA):c.226_242del (p.Gly76fs) rs2140344404
NM_000520.6(HEXA):c.228del (p.Ser77fs) rs2542581249
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.25dup (p.Ser9fs) rs1057517348
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.276dup (p.Asn93fs) rs2088785055
NM_000520.6(HEXA):c.289_290del (p.Val97fs) rs2140329051
NM_000520.6(HEXA):c.293_294del (p.Ser98fs)
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) rs2088783222
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.32del (p.Leu11fs) rs2140344855
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.395_398del (p.Val132fs) rs2140328176
NM_000520.6(HEXA):c.397del (p.Trp133fs) rs2088765656
NM_000520.6(HEXA):c.398G>A (p.Trp133Ter)
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.3G>T (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.422del (p.Thr141fs) rs2088733629
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.426del (p.Phe142fs) rs1057519458
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter) rs2088733143
NM_000520.6(HEXA):c.459+4A>C rs1057519459
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.477_478del (p.Glu160fs) rs2542532770
NM_000520.6(HEXA):c.492del (p.Arg166fs) rs2140326388
NM_000520.6(HEXA):c.496del (p.Arg166fs) rs2088724288
NM_000520.6(HEXA):c.514_515del (p.Leu172fs)
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs) rs2140344825
NM_000520.6(HEXA):c.521dup (p.Leu174fs) rs2542532585
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) rs1057519460
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) rs28941770
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter) rs121907969
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.570G>A (p.Leu190=) rs1188885214
NM_000520.6(HEXA):c.608G>A (p.Trp203Ter)
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) rs2088690227
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+1G>T rs387906311
NM_000520.6(HEXA):c.672+2T>C rs2140324625
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) rs587779407
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.743del (p.Leu248fs) rs2140324174
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000520.6(HEXA):c.749del (p.Gly250fs) rs1190309903
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter) rs2542526228
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter) rs2542523070
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs) rs2542522978
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) rs1057519463
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.938del (p.Pro313fs) rs2140322934
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly) rs2088660373
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter) rs2542522575
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter) rs2542522531
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile) rs2140322212

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