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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06828
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	rs121908012	0.00025
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	rs200389141	0.00017
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	rs150146721	0.00007
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)	rs121908020	0.00007
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)	rs755764533	0.00003
NM_000140.5(FECH):c.40del (p.Ala14fs)	rs1171981319	0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	rs41556519	0.00003
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)	rs1434876636	0.00001
NM_000057.4(BLM):c.1624del (p.Asp542fs)	rs747498968
NM_000190.4(HMBS):c.9_33+11del	rs2497396935
NM_000380.4(XPA):c.640dup (p.Met214fs)	rs1405271436
NM_000380.4(XPA):c.759dup (p.Asp254fs)	rs777372873
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	rs121918324
NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)	rs770709355

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