List of variants reported as likely pathogenic for d-bifunctional protein deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)	rs748057401	0.00003
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)	rs1006852881
NM_000414.4(HSD17B4):c.303-1G>A	rs2531610317
NM_000414.4(HSD17B4):c.760G>A (p.Gly254Arg)	rs2531703971

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