ClinVar Miner

List of variants reported as likely pathogenic for Tay-Sachs disease

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Total variants: 78
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HGVS dbSNP
NC_000015.10:g.(?_72345446)_(72346710_?)del
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1073+1G>T rs76173977
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter) rs1057516617
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs) rs1555472440
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs) rs1555472432
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs) rs1555475498
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.1444G>A (p.Glu482Lys) rs121907952
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter) rs1555472270
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+2T>C rs1555472262
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.183_193del (p.Asp62fs) rs1057516640
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter) rs1057516957
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.24_25del (p.Ser9fs) rs1057517348
NM_000520.6(HEXA):c.253+1G>A rs770093080
NM_000520.6(HEXA):c.254-2A>G
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.346+1G>C rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys)
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.460-1G>T rs764343937
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953
NM_000520.6(HEXA):c.547_548CT[2] (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) rs1555475519
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-1G>C rs1057516908
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950
NM_000520.6(HEXA):c.912_914CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) rs786204515
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.977del (p.Phe326fs) rs756040251
NM_000520.6(HEXA):c.986+3A>G rs200926928

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