ClinVar Miner

List of variants reported as likely benign for GM2 gangliosidosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.*630A>G rs35949555 0.05706
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000405.5(GM2A):c.*2643G>T rs114108271 0.01991
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_000521.4(HEXB):c.*40A>C rs184908092 0.00397
NM_000405.5(GM2A):c.*226C>T rs537947985 0.00255
NM_000405.5(GM2A):c.*864C>T rs191120902 0.00151
NM_000405.5(GM2A):c.33C>T (p.Ile11=) rs143867953 0.00096
NM_000405.5(GM2A):c.126G>A (p.Gly42=) rs113271740 0.00041
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000405.5(GM2A):c.*255C>T rs75026189 0.00016
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) rs28365994 0.00013
NM_000405.5(GM2A):c.*629C>T rs184763035 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000405.5(GM2A):c.*1312G>T rs541345989
NM_000521.4(HEXB):c.*82_*83del rs56312827

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