ClinVar Miner

List of variants studied for porphyria by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) rs112762537 0.00140
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000097.7(CPOX):c.47T>G (p.Val16Gly) rs941183666 0.00006
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197 0.00005
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) rs761810461 0.00003
NM_000097.7(CPOX):c.178C>G (p.Arg60Gly) rs780436492 0.00002
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) rs145286580 0.00002
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_000190.4(HMBS):c.500G>C (p.Arg167Pro) rs118204095

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.