ClinVar Miner

List of variants studied for Glycogen storage disease due to muscle and heart glycogen synthase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_002103.5(GYS1):c.-182T>G rs2287755 0.09792
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_002103.5(GYS1):c.-125C>T rs2287754 0.07560
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.*841A>G rs75797604 0.01139
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.*908G>A rs117997270 0.00664
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_002103.5(GYS1):c.*256G>A rs148077948 0.00465
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
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.*301G>A rs147489255 0.00165
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083
NM_002103.5(GYS1):c.*357G>A rs570639504 0.00061
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_002103.5(GYS1):c.-19C>A rs2287753 0.00045
NM_002103.5(GYS1):c.1338C>T (p.His446=) rs139974904 0.00029
NM_002103.5(GYS1):c.*229C>T rs920764718 0.00023
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_002103.5(GYS1):c.*824del rs886054565 0.00011
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892 0.00011
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595 0.00009
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727 0.00009
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00007
NM_002103.4(GYS1):c.-199T>C rs770497351 0.00006
NM_002103.5(GYS1):c.*1044T>G rs886054564 0.00006
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_002103.5(GYS1):c.1077G>A (p.Glu359=) rs756998086 0.00006
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys) rs1003071543 0.00006
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421 0.00006
NM_002103.5(GYS1):c.*395C>T rs112850979 0.00005
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys) rs574739791 0.00005
NM_002103.5(GYS1):c.*78C>T rs749720376 0.00004
NM_002103.5(GYS1):c.*969C>T rs900047388 0.00004
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002103.5(GYS1):c.303G>A (p.Val101=) rs1391443496 0.00004
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002103.5(GYS1):c.652G>A (p.Val218Met) rs771977818 0.00004
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_002103.5(GYS1):c.-171A>T rs766268073 0.00003
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034 0.00003
NM_002103.5(GYS1):c.741G>A (p.Ala247=) rs3745692 0.00003
NM_002103.5(GYS1):c.-26C>T rs202114467 0.00002
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) rs13306415 0.00002
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala) rs775775270 0.00002
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr) rs1205499394 0.00002
NM_002103.5(GYS1):c.803A>T (p.His268Leu) rs769630976 0.00002
NM_002103.5(GYS1):c.*110G>A rs1008518917 0.00001
NM_002103.5(GYS1):c.*413G>A rs1296511627 0.00001
NM_002103.5(GYS1):c.*472G>A rs886054566 0.00001
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) rs751121252 0.00001
NM_002103.5(GYS1):c.1169+13C>T rs775362871 0.00001
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) rs748765779 0.00001
NM_002103.5(GYS1):c.1242C>T (p.Pro414=) rs751382433 0.00001
NM_002103.5(GYS1):c.1308+5G>A rs779587345 0.00001
NM_002103.5(GYS1):c.1810-14C>T rs2038529046 0.00001
NM_002103.5(GYS1):c.1872G>A (p.Glu624=) rs1421512196 0.00001
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu) rs886054569 0.00001
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) rs886054568 0.00001
NM_002103.5(GYS1):c.216C>T (p.Gly72=) rs773065230 0.00001
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly) rs2038838431 0.00001
NM_002103.5(GYS1):c.942-9G>A rs762629200 0.00001
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.*143C>G rs995248958
NM_002103.5(GYS1):c.*26G>A rs886054567
NM_002103.5(GYS1):c.*465G>A rs2038501511
NM_002103.5(GYS1):c.*59A>T rs973667510
NM_002103.5(GYS1):c.-157C>T rs748554746
NM_002103.5(GYS1):c.-172T>C rs886054574
NM_002103.5(GYS1):c.-195T>A rs2038974225
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp) rs886054571
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys) rs868354195
NM_002103.5(GYS1):c.1170-13C>T rs886054570
NM_002103.5(GYS1):c.1278T>G (p.Thr426=) rs2038685440
NM_002103.5(GYS1):c.1377C>T (p.Thr459=) rs2038616834
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg) rs556352989
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.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.300G>A (p.Lys100=) rs886054572
NM_002103.5(GYS1):c.417C>T (p.Ile139=) rs758550328

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