ClinVar Miner

List of variants reported as benign for GM2 gangliosidosis by Genome-Nilou Lab

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_000521.4(HEXB):c.558+45G>A rs1665894 0.89050
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000405.5(GM2A):c.205A>G (p.Met69Val) rs153478 0.73795
NM_000405.5(GM2A):c.175A>G (p.Ile59Val) rs153477 0.62259
NM_000405.5(GM2A):c.582A>G (p.Ter194=) rs1048723 0.23979
NM_000521.4(HEXB):c.300-32C>T rs35711978 0.23197
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_000520.6(HEXA):c.1074-94C>A rs2303449 0.12787
NM_000520.6(HEXA):c.1074-127A>T rs2303450 0.12778
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_000520.6(HEXA):c.570+57G>A rs12440768 0.04919
NM_000520.6(HEXA):c.1331-46G>A rs2303448 0.04341
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_000521.4(HEXB):c.512-112T>G rs1696979

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