ClinVar Miner

List of variants in gene LDHA reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_005566.4(LDHA):c.*129A>G
NM_005566.4(LDHA):c.*175C>T rs886048089
NM_005566.4(LDHA):c.*18T>C
NM_005566.4(LDHA):c.*228G>A
NM_005566.4(LDHA):c.*253G>A rs758268446
NM_005566.4(LDHA):c.*311C>T rs200079157
NM_005566.4(LDHA):c.*312G>A
NM_005566.4(LDHA):c.*48C>T
NM_005566.4(LDHA):c.*501C>A rs886048090
NM_005566.4(LDHA):c.*52G>T
NM_005566.4(LDHA):c.*586A>G rs886048091
NM_005566.4(LDHA):c.*604A>T
NM_005566.4(LDHA):c.*660C>T rs765180823
NM_005566.4(LDHA):c.*666C>T
NM_005566.4(LDHA):c.*694C>T
NM_005566.4(LDHA):c.*706G>A rs757942016
NM_005566.4(LDHA):c.*725T>G rs753218262
NM_005566.4(LDHA):c.*745T>C rs867222703
NM_005566.4(LDHA):c.*762T>G
NM_005566.4(LDHA):c.*817A>C rs527401531
NM_005566.4(LDHA):c.*835A>G rs886048092
NM_005566.4(LDHA):c.*914A>G
NM_005566.4(LDHA):c.-64T>C
NM_005566.4(LDHA):c.126+3_126+6del rs776715682
NM_005566.4(LDHA):c.137A>T (p.Asp46Val)
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys)
NM_005566.4(LDHA):c.183G>A (p.Glu61=) rs149588992
NM_005566.4(LDHA):c.222A>G (p.Thr74=) rs201254300
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
NM_005566.4(LDHA):c.285G>A (p.Thr95=) rs202160072
NM_005566.4(LDHA):c.30T>C (p.Tyr10=)
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) rs116841148
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn)
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly)
NM_005566.4(LDHA):c.538G>T (p.Val180Phe)
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870
NM_005566.4(LDHA):c.592+7A>G
NM_005566.4(LDHA):c.675del (p.Glu225fs) rs751851558
NM_005566.4(LDHA):c.764_765del (p.Ser255fs)
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)
NM_005566.4(LDHA):c.944G>A (p.Arg315His)
NM_005566.4(LDHA):c.975G>T (p.Gly325=)
NM_005566.4(LDHA):c.984G>A (p.Lys328=)
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter) rs121912479

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