ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) rs116841148 0.00148
NM_005566.4(LDHA):c.696G>C (p.Lys232Asn) rs141158742 0.00071
NM_005566.4(LDHA):c.672G>A (p.Lys224=) rs199918200 0.00041
NM_005566.4(LDHA):c.594G>C (p.Val198=) rs373534867 0.00017
NM_005566.4(LDHA):c.558T>C (p.His186=) rs570034363 0.00014
NM_005566.4(LDHA):c.711-8T>A rs200483406 0.00010
NM_005566.4(LDHA):c.162C>T (p.Ile54=) rs200075826 0.00009
NM_005566.4(LDHA):c.435C>T (p.Tyr145=) rs770829264 0.00009
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870 0.00009
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) rs184074326 0.00006
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) rs199653952 0.00002
NM_005566.4(LDHA):c.39A>C (p.Leu13=) rs371221146 0.00002
NM_005566.4(LDHA):c.222A>G (p.Thr74=) rs201254300 0.00001
NM_005566.4(LDHA):c.285G>A (p.Thr95=) rs202160072 0.00001
NM_005566.4(LDHA):c.291G>A (p.Gly97=) rs200724597 0.00001
NM_005566.4(LDHA):c.126+17C>T
NM_005566.4(LDHA):c.138T>C (p.Asp46=) rs2134021527
NM_005566.4(LDHA):c.172T>C (p.Leu58=)
NM_005566.4(LDHA):c.231T>C (p.Ile77=)
NM_005566.4(LDHA):c.245-11C>T
NM_005566.4(LDHA):c.273G>C (p.Leu91=)
NM_005566.4(LDHA):c.300G>A (p.Gln100=)
NM_005566.4(LDHA):c.315C>T (p.Ser105=)
NM_005566.4(LDHA):c.339C>T (p.Asn113=)
NM_005566.4(LDHA):c.419-16T>G
NM_005566.4(LDHA):c.543C>T (p.His181=)
NM_005566.4(LDHA):c.57C>G (p.Pro19=)
NM_005566.4(LDHA):c.592+17T>G
NM_005566.4(LDHA):c.593-11A>G
NM_005566.4(LDHA):c.593-20G>A
NM_005566.4(LDHA):c.593-7C>A rs1866576661
NM_005566.4(LDHA):c.710+16A>T
NM_005566.4(LDHA):c.710+19T>C rs1430822822
NM_005566.4(LDHA):c.711-19A>G
NM_005566.4(LDHA):c.732C>T (p.Leu244=)
NM_005566.4(LDHA):c.762C>G (p.Leu254=)
NM_005566.4(LDHA):c.768A>C (p.Val256=)
NM_005566.4(LDHA):c.810G>A (p.Val270=)
NM_005566.4(LDHA):c.834+20C>T
NM_005566.4(LDHA):c.835-14C>T
NM_005566.4(LDHA):c.835-14_835-11del
NM_005566.4(LDHA):c.835-8A>C
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
NM_005566.4(LDHA):c.861C>T (p.Val287=)
NM_005566.4(LDHA):c.882T>C (p.Ile294=)
NM_005566.4(LDHA):c.933G>A (p.Glu311=)
NM_005566.4(LDHA):c.942C>G (p.Ala314=)
NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer)

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