ClinVar Miner

List of variants studied for GM2 gangliosidosis by Sema4, Sema4

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965

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