ClinVar Miner

List of variants studied for GM2 gangliosidosis by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) rs1319123888

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