ClinVar Miner

List of variants studied for GM2 gangliosidosis by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
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.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000405.5(GM2A):c.412T>C (p.Cys138Arg) rs137852797 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.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 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.772G>C (p.Asp258His) rs121907971 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NC_000005.10:g.(?_74640023)_(74705321_74713505)del
NG_009770.3:g.48585_63669del
NM_000405.5(GM2A):c.160G>T (p.Glu54Ter) rs104893897
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.262_264del (p.Lys88del) rs1753894328
NM_000405.5(GM2A):c.410del (p.His137fs) rs2127240813
NM_000405.5(GM2A):c.506G>C (p.Arg169Pro) rs104893892
NM_000520.4(HEXA):c.-2564_253+5128delinsG
NM_000520.4(HEXA):c.[574G>C;598G>A]
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
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.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) rs387906949
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
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.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) rs121907974
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.805+1G>A rs121907980
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.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del) rs797044434
NM_000521.4(HEXB):c.1082+5G>C rs5030731
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) rs1554037088
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105

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