ClinVar Miner

List of variants studied for variegate porphyria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001122764.3(PPOX):c.-247C>A rs2301286 0.34791
NM_001122764.3(PPOX):c.-128C>G rs72714915 0.05168
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429 0.04522
NM_001122764.3(PPOX):c.-151G>T rs115158839 0.01570
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_001122764.3(PPOX):c.-246G>T rs114493458 0.00229
NM_001122764.3(PPOX):c.87+13C>T rs201155115 0.00103
NM_001122764.3(PPOX):c.617-6C>T rs200192089 0.00071
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys) rs190919484 0.00067
NM_001122764.3(PPOX):c.471+3G>A rs200920978 0.00037
NM_001122764.3(PPOX):c.-251G>C rs368129128 0.00033
NM_001122764.3(PPOX):c.-1C>T rs148045152 0.00021
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) rs148730591 0.00009
NM_001122764.3(PPOX):c.1248+4A>G rs775748399 0.00006
NM_001122764.3(PPOX):c.936G>A (p.Val312=) rs751511778 0.00006
NM_001122764.3(PPOX):c.-211C>A rs140693401 0.00004
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) rs772971420 0.00004
NM_001122764.3(PPOX):c.-149G>T rs186428034 0.00003
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys) rs751599052 0.00002
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) rs145286580 0.00002
NM_001122764.3(PPOX):c.-180T>C rs886045450 0.00001
NM_001122764.3(PPOX):c.-2G>T rs779526273 0.00001
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121 0.00001
NM_001122764.3(PPOX):c.597G>T (p.Leu199=) rs769659160 0.00001
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val) rs758572020 0.00001
NM_001122764.3(PPOX):c.-174A>G rs886045451
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) rs771215757
NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val) rs886045455
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr) rs1661220672
NM_001122764.3(PPOX):c.338+9A>G rs886045453
NM_001122764.3(PPOX):c.522C>T (p.Asn174=) rs886045454
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe) rs1659928956
NM_001122764.3(PPOX):c.69G>T (p.Arg23=) rs886045452

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