List of variants in gene GYS1 reported as uncertain significance by GeneDx

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)	rs142951866	0.00054
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)	rs145448665	0.00036
NM_002103.5(GYS1):c.213G>C (p.Gln71His)	rs200998100	0.00035
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)	rs200672892	0.00011
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)	rs1003071543	0.00006
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)	rs574739791	0.00005
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro)	rs147627546	0.00003
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)	rs150822415	0.00003
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)	rs756642679	0.00002
NM_002103.5(GYS1):c.1493G>A (p.Arg498His)	rs757918424	0.00001
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg)	rs763807232	0.00001
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr)	rs376523274	0.00001
NM_002103.5(GYS1):c.988G>A (p.Gly330Ser)	rs772283044	0.00001
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu)	rs1131691586
NM_002103.5(GYS1):c.1196A>G (p.Lys399Arg)	rs781588172
NM_002103.5(GYS1):c.1309-3C>T
NM_002103.5(GYS1):c.2165del (p.Pro722fs)	rs757063983

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