ClinVar Miner

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

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)	rs140337137	0.00100
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)	rs145012038	0.00038
NM_000520.6(HEXA):c.582G>A (p.Ala194=)	rs112614306	0.00016

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