ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to hepatic glycogen synthase deficiency by Invitae

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Total variants: 16
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NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420
NM_021957.4(GYS2):c.1638T>A (p.Thr546=)
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys) rs148617918
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys) rs369069984
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val) rs202136674
NM_021957.4(GYS2):c.1829A>G (p.His610Arg)
NM_021957.4(GYS2):c.1906T>C (p.Tyr636His) rs143798221
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
NM_021957.4(GYS2):c.427C>T (p.Pro143Ser)
NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg) rs376935348
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)
NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)

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