List of variants in gene FECH reported as likely pathogenic for protoporphyria, erythropoietic, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000140.5(FECH):c.315-48T>C	rs2272783	0.06828
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	rs150146721	0.00007
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)	rs1198671446	0.00003
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)	rs370708663	0.00002
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.835G>A (p.Glu279Lys)	rs2050849085	0.00001
NM_000140.5(FECH):c.1136del (p.Lys379fs)	rs764466739
NM_000140.5(FECH):c.181C>T (p.Gln61Ter)	rs2122357230
NM_000140.5(FECH):c.365del (p.Gln122fs)	rs1599003455
NM_000140.5(FECH):c.672T>G (p.Ile224Met)	rs2511528538
NM_000140.5(FECH):c.863T>C (p.Met288Thr)

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