List of variants in gene GYS2 reported as likely pathogenic for carbohydrate metabolism disease

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00009
NM_021957.4(GYS2):c.495+1G>T	rs372079212	0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	rs121918419	0.00009
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)	rs121918423	0.00006
NM_021957.4(GYS2):c.1081del (p.Thr361fs)	rs771205749	0.00001
NM_021957.4(GYS2):c.1229+1G>A	rs764539267	0.00001
NM_021957.4(GYS2):c.1230-1G>A	rs766733439	0.00001
NM_021957.4(GYS2):c.1062+1G>T	rs781511110
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)	rs121918422
NM_021957.4(GYS2):c.1701_1704del (p.Thr568fs)
NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)	rs150382575
NM_021957.4(GYS2):c.942-2A>G

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