ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
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.777G>A (p.Leu259=) rs137996815 0.00021
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.951G>A (p.Lys317=) rs145889467 0.00004
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
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_005566.3(LDHA):c.-152dup rs371317664
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.