ClinVar Miner

List of variants studied for Lactic aciduria due to D-lactic acid

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met) rs764877688 0.00012
NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp) rs2036459233 0.00001
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys) rs1567502487
NM_194436.3(LDHD):c.1294dup (p.Ala432fs)
NM_194436.3(LDHD):c.469+1dup
NM_194436.3(LDHD):c.561_562del (p.Leu188fs)
NM_194436.3(LDHD):c.683C>T (p.Thr228Met)
c.206T-C (rs1035398551)

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