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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_012213.3(MLYCD):c.60del (p.Arg21fs)	rs987846203	0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)	rs121908081	0.00001
NM_012213.3(MLYCD):c.119T>C (p.Met40Thr)	rs28937908
NM_012213.3(MLYCD):c.124G>T (p.Glu42Ter)
NM_012213.3(MLYCD):c.141_142del (p.Val48fs)	rs1906687546
NM_012213.3(MLYCD):c.162C>A (p.Tyr54Ter)
NM_012213.3(MLYCD):c.1A>C (p.Met1Leu)
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu)	rs1179555424
NM_012213.3(MLYCD):c.22_34del (p.Leu8fs)
NM_012213.3(MLYCD):c.22_34dup (p.Arg12fs)	rs938617354
NM_012213.3(MLYCD):c.2T>C (p.Met1Thr)
NM_012213.3(MLYCD):c.92_116del (p.Gln31fs)

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