ClinVar Miner

List of variants reported as pathogenic for GM2 gangliosidosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
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.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
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.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126

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