List of variants in gene GM2A reported as likely pathogenic for GM2 gangliosidosis

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)	rs775585062	0.00001
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)	rs730882196
NM_000405.5(GM2A):c.226_227del (p.Leu76fs)
NM_000405.5(GM2A):c.244-2A>T	rs1057519022
NM_000405.5(GM2A):c.262_264del (p.Lys88del)	rs1753894328
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)
NM_000405.5(GM2A):c.367del (p.Glu123fs)	rs1302210667
NM_000405.5(GM2A):c.427-14T>A
NM_000405.5(GM2A):c.472G>T (p.Glu158Ter)	rs1057519021

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