ClinVar Miner

List of variants reported as likely benign for Glycogen storage disorder due to hepatic glycogen synthase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.2072C>T (p.Pro691Leu) rs144564037 0.00078
NM_021957.4(GYS2):c.2068G>T (p.Val690Phe) rs148461282 0.00076
NM_021957.4(GYS2):c.1710T>C (p.Phe570=) rs149907949 0.00056
NM_021957.4(GYS2):c.1890+12A>G rs192853475 0.00013
NM_021957.4(GYS2):c.630G>A (p.Gly210=) rs201503558 0.00012
NM_021957.4(GYS2):c.526G>A (p.Val176Ile) rs752277622 0.00010
NM_021957.4(GYS2):c.1645+7G>T rs199505368 0.00006
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu) rs182582633 0.00006
NM_021957.4(GYS2):c.750T>C (p.His250=) rs200713752 0.00005
NM_021957.4(GYS2):c.60C>T (p.Val20=) rs779375076 0.00004
NM_021957.4(GYS2):c.678+15C>T rs746053377 0.00004
NM_021957.4(GYS2):c.942-12G>A rs367916210 0.00004
NM_021957.4(GYS2):c.1384C>A (p.Arg462=) rs1377248525 0.00003
NM_021957.4(GYS2):c.495+14T>C rs113287204 0.00003
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400 0.00003
NM_021957.4(GYS2):c.1230-5T>G rs777032042 0.00001
NM_021957.4(GYS2):c.1318T>C (p.Leu440=) rs371025503 0.00001
NM_021957.4(GYS2):c.1866T>C (p.His622=) rs975935766 0.00001
NM_021957.4(GYS2):c.941+16T>A rs993240101 0.00001
NM_021957.4(GYS2):c.1062+13T>C
NM_021957.4(GYS2):c.1176T>C (p.Val392=)
NM_021957.4(GYS2):c.121+20del rs780527297
NM_021957.4(GYS2):c.1229+11G>C
NM_021957.4(GYS2):c.1229+20_1229+26del
NM_021957.4(GYS2):c.1245C>T (p.Asp415=)
NM_021957.4(GYS2):c.1335G>A (p.Thr445=)
NM_021957.4(GYS2):c.1422+7C>A rs1591788895
NM_021957.4(GYS2):c.1542T>C (p.Tyr514=) rs2136849748
NM_021957.4(GYS2):c.1549+12G>A
NM_021957.4(GYS2):c.1550-12T>C rs2136842291
NM_021957.4(GYS2):c.174A>G (p.Glu58=)
NM_021957.4(GYS2):c.294T>C (p.His98=)
NM_021957.4(GYS2):c.36G>A (p.Leu12=) rs773596311
NM_021957.4(GYS2):c.420C>G (p.Val140=)
NM_021957.4(GYS2):c.495+10A>G
NM_021957.4(GYS2):c.513T>C (p.Asp171=)
NM_021957.4(GYS2):c.823+18A>G
NM_021957.4(GYS2):c.840C>T (p.Asn280=)
NM_021957.4(GYS2):c.941+20A>G

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