List of variants reported as pathogenic for porphyria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	rs121908012	0.00022
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	rs150146721	0.00006
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)	rs121908020	0.00006
NM_000140.5(FECH):c.40del (p.Ala14fs)
NM_000190.4(HMBS):c.9_33+11del
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	rs121918324

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