ClinVar Miner

List of variants in gene HEXB reported as uncertain significance for GM2 gangliosidosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000521.3(HEXB):c.-52C>A rs886060748 0.00009
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) rs754108567 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) rs762209256 0.00002
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) rs373731814 0.00001
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met) rs762367349 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) rs773007352 0.00001
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) rs1400667054 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) rs749646826 0.00001
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) rs767663018 0.00001
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) rs763927371 0.00001
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) rs1193552297 0.00001
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) rs768218036 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) rs759538325 0.00001
NM_000521.4(HEXB):c.512-3C>A rs1376742145 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr) rs765229504 0.00001
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) rs865822685 0.00001
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) rs867255937 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) rs1255790136 0.00001
NC_000005.10:g.74685139C>T
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.*4dup (p.Ter557=) rs771506320
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
NM_000521.4(HEXB):c.1049A>T (p.His350Leu) rs2112175313
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) rs781244479
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
NM_000521.4(HEXB):c.1169+5G>C
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
NM_000521.4(HEXB):c.1242+3G>A
NM_000521.4(HEXB):c.1243-9C>A
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) rs757550590
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) rs797045614
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg) rs2112180879
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala) rs1392645389
NM_000521.4(HEXB):c.1382G>A (p.Arg461Lys) rs2112180932
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) rs750595127
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) rs760333736
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
NM_000521.4(HEXB):c.1508+6G>C
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys) rs1417317737
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) rs760366178
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1614-25_1614-7dup rs1554037306
NM_000521.4(HEXB):c.1614-6_1628dup rs2112188881
NM_000521.4(HEXB):c.1614-8_1614-6dup rs1271274603
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) rs1554037322
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) rs766477016
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) rs774155487
NM_000521.4(HEXB):c.197C>T (p.Thr66Ile)
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) rs1057518709
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
NM_000521.4(HEXB):c.300A>C (p.Arg100=) rs1303786596
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys) rs1748942839
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.34C>T (p.Pro12Ser)
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) rs1748945643
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) rs951616685
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
NM_000521.4(HEXB):c.512G>T (p.Gly171Val)
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro) rs1177358563
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) rs1352027066
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) rs1554034424
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) rs887796660
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) rs1554034426
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) rs745791892
NM_000521.4(HEXB):c.766A>C (p.Asn256His) rs2112156485
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
NM_000521.4(HEXB):c.771+5G>C rs727503959
NM_000521.4(HEXB):c.771+985G>A
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) rs886044118
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
NM_000521.4(HEXB):c.880C>T (p.His294Tyr) rs2112171970
NM_000521.4(HEXB):c.881A>G (p.His294Arg) rs1749605069
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) rs1554034432
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) rs2112172036
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr) rs1749649940
NM_000521.4(HEXB):c.969C>A (p.Asn323Lys)
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) rs1561226697

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