ClinVar Miner

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

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002300.8(LDHB):c.523A>G (p.Met175Val) rs7966339 0.00203
NM_002300.8(LDHB):c.621G>T (p.Val207=) rs147896432 0.00070
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn) rs145355418 0.00057
NM_002300.7(LDHB):c.-102C>A rs542962114 0.00037
NM_002300.8(LDHB):c.749A>G (p.Asn250Ser) rs144739734 0.00022
NM_002300.8(LDHB):c.130-8G>A rs369064312 0.00007
NM_002300.8(LDHB):c.585C>T (p.Gly195=) rs141629567 0.00006
NM_002300.8(LDHB):c.375C>T (p.Ile125=) rs141707607 0.00004
NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys) rs369382991 0.00003
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr) rs775184475 0.00002
NM_002300.8(LDHB):c.129+11A>G rs886049166 0.00001
NM_002300.8(LDHB):c.421+7T>C rs375249355 0.00001
NM_002300.8(LDHB):c.422-10A>G rs886049165 0.00001
NM_002300.8(LDHB):c.727A>G (p.Ile243Val) rs750220072 0.00001
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala) rs200158121 0.00001
NM_002300.7(LDHB):c.-109C>T rs886049167
NM_002300.8(LDHB):c.*73T>C rs886049163
NM_002300.8(LDHB):c.-34A>G rs1938903896
NM_002300.8(LDHB):c.-71C>G rs977721300
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu) rs1938543300
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg) rs1938542112
NM_002300.8(LDHB):c.528T>A (p.Ala176=) rs886049164
NM_002300.8(LDHB):c.843G>A (p.Met281Ile) rs150060988
NM_002300.8(LDHB):c.946C>T (p.Gln316Ter) rs1565623986

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