ClinVar Miner

List of variants reported as likely pathogenic for GM2 gangliosidosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
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.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.436del (p.Val146fs) rs1057517174 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) rs398123448 0.00002
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) rs1352786910 0.00002
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter) rs775585062 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 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.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 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.72G>A (p.Trp24Ter) rs1555475519 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter) rs1749739842 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1508+1G>A rs758459585 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) rs762821794 0.00001
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter) rs1749130074 0.00001
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) rs1453919511 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NC_000005.9:g.(?_73992508)_(73992941_?)dup
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72640007)_(72641620_?)dup
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.226_227del (p.Leu76fs)
NM_000405.5(GM2A):c.244-2A>T rs1057519022
NM_000405.5(GM2A):c.262_264del (p.Lys88del) rs1753894328
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)
NM_000405.5(GM2A):c.367del (p.Glu123fs) rs1302210667
NM_000405.5(GM2A):c.427-14T>A
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter) rs1057519021
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.6(HEXA):c.1002del (p.Ile335fs)
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter) rs1322698222
NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile)
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter) rs2089059318
NM_000520.6(HEXA):c.103del (p.Gln35fs)
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.1073+1G>T rs76173977
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
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.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter) rs2088635583
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter) rs2088635505
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter) rs1415609256
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter) rs2088635332
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.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs) rs1555472432
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) rs1177678117
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) rs1057519465
NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)
NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)
NM_000520.6(HEXA):c.1349del (p.Ala450fs) rs1057519466
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) rs121907978
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
NM_000520.6(HEXA):c.1395C>G (p.Asp465Glu)
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.144C>A (p.Tyr48Ter)
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter) rs1555472270
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+2T>C rs1555472262
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.183_193del (p.Asp62fs) rs1057516640
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.207_208del (p.Asp70fs)
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.24_25del (p.Ser9fs) rs1057517348
NM_000520.6(HEXA):c.254-1G>C
NM_000520.6(HEXA):c.254-2A>G rs2088785868
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter) rs2088784856
NM_000520.6(HEXA):c.288del (p.Val97fs)
NM_000520.6(HEXA):c.314del (p.Asn105fs)
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) rs748190164
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys) rs1282031681
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter) rs2088766427
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
NM_000520.6(HEXA):c.400_401del (p.Gly134fs)
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000520.6(HEXA):c.413-1G>A
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.421_422insAGGAGCC (p.Thr141fs)
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter) rs2088732981
NM_000520.6(HEXA):c.459+1G>A rs2140326761
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.460-1G>A rs764343937
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) rs28941771
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.604C>T (p.His202Tyr) rs2140324712
NM_000520.6(HEXA):c.609G>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.616G>C (p.Val206Leu) rs543071358
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer) rs2088690482
NM_000520.6(HEXA):c.617T>A (p.Val206Glu)
NM_000520.6(HEXA):c.629C>G (p.Ser210Cys)
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.677C>T (p.Ser226Phe)
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)
NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
NM_000520.6(HEXA):c.786C>G (p.His262Gln)
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) rs2088664194
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)
NM_000520.6(HEXA):c.822_823del (p.Thr275fs)
NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
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.947dup (p.Tyr316Ter) rs786204515
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter) rs2088660599
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
NM_000520.6(HEXA):c.977del (p.Phe326fs) rs756040251
NM_000520.6(HEXA):c.986+1G>A rs2140322856
NM_000520.6(HEXA):c.986+1G>C rs2140322856
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter) rs121907967
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000520.6:c.572_1146del
NM_000521.4(HEXB):c.1015G>T (p.Glu339Ter)
NM_000521.4(HEXB):c.1015_1018del (p.Glu339fs)
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter) rs1749651571
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter) rs1749652247
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter) rs1354786875
NM_000521.4(HEXB):c.1082+2T>C rs989299922
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
NM_000521.4(HEXB):c.1169+1G>A
NM_000521.4(HEXB):c.1169+1G>C rs2112177192
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.118del (p.Ala40fs) rs1554034447
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
NM_000521.4(HEXB):c.1242+3G>T rs778226392
NM_000521.4(HEXB):c.1263_1268del (p.Glu422_Val423del)
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter) rs1749739842
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) rs761240717
NM_000521.4(HEXB):c.133del (p.Ala45fs) rs1554034449
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1404del (p.Asp470fs) rs2112180987
NM_000521.4(HEXB):c.1417+1G>T
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) rs121907983
NM_000521.4(HEXB):c.1520del (p.Ser507fs) rs1554037120
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1540_1541del (p.Trp514fs)
NM_000521.4(HEXB):c.1558dup (p.Arg520fs)
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) rs1749812910
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1579dup (p.Asp527fs)
NM_000521.4(HEXB):c.1600T>C (p.Cys534Arg)
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-7_1614-1dup rs2112188865
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) rs2112189087
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) rs1749847524
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.257_268delinsGC (p.Thr86fs)
NM_000521.4(HEXB):c.277del (p.Leu93fs)
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299+1G>A rs1554034505
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.300-1G>C rs967720287
NM_000521.4(HEXB):c.300-1_300del
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) rs1319123888
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.512-1G>T rs1554035308
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) rs1749120310
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.559-1G>A
NM_000521.4(HEXB):c.559-1G>T rs1311903314
NM_000521.4(HEXB):c.56del (p.Leu19fs) rs1554034423
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
NM_000521.4(HEXB):c.626del (p.Thr209fs)
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) rs1749130818
NM_000521.4(HEXB):c.692_693del (p.Lys230_Phe231insTer)
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) rs1554035822
NM_000521.4(HEXB):c.705C>G (p.His235Gln) rs2112156345
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter) rs1749359626
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.771+985G>A
NM_000521.4(HEXB):c.772-2A>C
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
NM_000521.4(HEXB):c.806del (p.Asn269fs) rs2112171738
NM_000521.4(HEXB):c.825del (p.Ile275fs) rs1554036523
NM_000521.4(HEXB):c.826_829del (p.Glu276fs)
NM_000521.4(HEXB):c.860del (p.Pro287fs)
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) rs2112171931
NM_000521.4(HEXB):c.901+1dup
NM_000521.4(HEXB):c.902-1G>T rs1554036638
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
NM_000521.4:c.1_669del

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