ClinVar Miner

List of variants studied for protoporphyria, erythropoietic, 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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.40del (p.Ala14fs) rs1171981319 0.00003
NM_000140.5(FECH):c.1078-5T>G rs1398391651

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