ClinVar Miner

List of variants in gene combination LOC130059554, MLYCD reported as uncertain significance for Deficiency of malonyl-CoA decarboxylase

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg) rs745604653 0.00064
NM_012213.3(MLYCD):c.135C>T (p.Arg45=) rs767969074 0.00018
NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser) rs915124487 0.00003
NM_012213.3(MLYCD):c.-11T>C rs886052355 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_012213.3(MLYCD):c.104C>T (p.Ala35Val)
NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu)
NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu)
NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala)
NM_012213.3(MLYCD):c.160T>A (p.Tyr54Asn)
NM_012213.3(MLYCD):c.164A>T (p.Glu55Val) rs1906688843
NM_012213.3(MLYCD):c.32G>A (p.Arg11Lys) rs774717448
NM_012213.3(MLYCD):c.41T>G (p.Leu14Arg) rs956352614
NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser) rs1292718330
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)
NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp)
NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser)
NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg)
NM_012213.3(MLYCD):c.8G>T (p.Gly3Val) rs121908081

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