ClinVar Miner

List of variants in gene combination LOC130059555, MLYCD reported as uncertain significance for Deficiency of malonyl-CoA decarboxylase

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.497C>T (p.Ala166Val) rs774598772 0.00005
NM_012213.3(MLYCD):c.515G>A (p.Gly172Glu) rs891464883 0.00004
NM_012213.3(MLYCD):c.505C>T (p.Leu169=) rs771885443 0.00003
NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro) rs780734812 0.00001
NM_012213.3(MLYCD):c.526C>T (p.Arg176Trp) rs766257090 0.00001
NM_012213.3(MLYCD):c.473G>C (p.Arg158Pro)
NM_012213.3(MLYCD):c.475del (p.Ala159fs) rs796051991
NM_012213.3(MLYCD):c.476C>T (p.Ala159Val) rs1440583341
NM_012213.3(MLYCD):c.491C>G (p.Ala164Gly) rs1044258796
NM_012213.3(MLYCD):c.495G>A (p.Gln165=) rs1183339497

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