ClinVar Miner

List of variants in gene LDHB studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_002300.7(LDHB):c.*73T>C rs886049163
NM_002300.7(LDHB):c.-102C>A rs542962114
NM_002300.7(LDHB):c.-109C>T rs886049167
NM_002300.7(LDHB):c.-81G>C rs74069329
NM_002300.7(LDHB):c.129+11A>G rs886049166
NM_002300.7(LDHB):c.130-3_130-2del rs200371155
NM_002300.7(LDHB):c.19A>G (p.Lys7Glu) rs118203897
NM_002300.7(LDHB):c.375C>T (p.Ile125=) rs141707607
NM_002300.7(LDHB):c.385A>C (p.Ser129Arg) rs118203896
NM_002300.7(LDHB):c.421+7T>C rs375249355
NM_002300.7(LDHB):c.422-10A>G rs886049165
NM_002300.7(LDHB):c.472C>T (p.Arg158Cys) rs532712842
NM_002300.7(LDHB):c.515G>A (p.Arg172His) rs118203895
NM_002300.7(LDHB):c.528T>A (p.Ala176=) rs886049164
NM_002300.7(LDHB):c.585C>T (p.Gly195=) rs141629567
NM_002300.7(LDHB):c.621G>T (p.Val207=) rs147896432
NM_002300.7(LDHB):c.713+15A>G rs1650289
NM_002300.7(LDHB):c.719A>G (p.Tyr240Cys) rs369382991
NM_002300.7(LDHB):c.727A>G (p.Ile243Val) rs750220072
NM_002300.7(LDHB):c.749A>G (p.Asn250Ser) rs144739734
NM_002300.7(LDHB):c.879A>G (p.Pro293=) rs4828
NM_002300.7(LDHB):c.946C>T (p.Gln316Ter) rs1565623986
NM_002300.7(LDHB):c.973T>C (p.Trp325Arg) rs267607212
NM_002300.8(LDHB):c.-34A>G
NM_002300.8(LDHB):c.-71C>G
NM_002300.8(LDHB):c.130-8G>A
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)
NM_002300.8(LDHB):c.421+13A>G
NM_002300.8(LDHB):c.523A>G (p.Met175Val)
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)
NM_002300.8(LDHB):c.843G>A (p.Met281Ile)

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