List of variants reported as likely pathogenic for autosomal erythropoietic protoporphyria

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06200
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	rs150146721	0.00006
NM_000140.5(FECH):c.913G>T (p.Val305Phe)	rs765518889	0.00002
NM_000140.5(FECH):c.599-3C>T	rs765069812	0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)	rs370708663	0.00001
NM_000140.5(FECH):c.181C>T (p.Gln61Ter)	rs2122357230
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
NM_000140.5(FECH):c.365del (p.Gln122fs)	rs1599003455
NM_000140.5(FECH):c.47del (p.Gly16fs)	rs2051380165
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp)	rs1555412542

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