ClinVar Miner

List of variants reported as likely pathogenic for GM2 gangliosidosis by Institute of Human Genetics, University of Leipzig Medical Center

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_000405.5(GM2A):c.262_264del (p.Lys88del)	rs1753894328
NM_000520.6(HEXA):c.1123del (p.Glu375fs)	rs766138785
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)	rs121907959

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