List of variants in gene GYS1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)	rs573897595	0.00009
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)	rs137913986	0.00005
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)	rs750379099	0.00001
NM_002103.5(GYS1):c.1349A>T (p.Asp450Val)
NM_002103.5(GYS1):c.1520C>T (p.Ser507Phe)	rs1555798356
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)

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