ClinVar Miner

List of variants studied for malonic aciduria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):

Deficiency of malonyl-CoA decarboxylase

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter)
NM_012213.3(MLYCD):c.475del (p.Ala159fs)	rs796051991
NM_012213.3(MLYCD):c.667_668delinsT (p.Asn223fs)

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