ClinVar Miner

List of variants reported as benign for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by Invitae

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01434
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_002103.5(GYS1):c.1549+7G>A rs5449 0.01125
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448 0.00719
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677 0.00107
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371 0.00008
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00007
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) rs13306415 0.00002
NM_002103.5(GYS1):c.1423-10del
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.941+10dup

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