ClinVar Miner

List of variants studied for Deficiency of malonyl-CoA decarboxylase by Revvity Omics, Revvity

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) rs375935118 0.00042
NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter) rs104894528 0.00004
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile)
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
NM_012213.3(MLYCD):c.315G>C (p.Gln105His)
NM_012213.3(MLYCD):c.368dup (p.Gln124fs) rs1906699127
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) rs146465073

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