List of variants in gene GFM2, HEXB studied for Sandhoff disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000521.4(HEXB):c.*40A>C	rs184908092	0.00397
NM_000521.4(HEXB):c.*105T>C	rs777009900	0.00001
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter)	rs1407085233	0.00001
NC_000005.9:g.(?_73980960)_(74041702_?)del
NM_000521.4(HEXB):c.82_83del	rs56312827
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)	rs1749847397
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter)	rs35080306
NM_032380.5(GFM2):c.2239dup (p.Thr747fs)	rs1554037537

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