ClinVar Miner

List of variants in gene PPOX studied for variegate porphyria

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 62
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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.1206A>C (p.Gly402=) rs112762537 0.00140
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.35T>C (p.Ile12Thr) rs28936677 0.00005
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.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 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.1043A>G (p.Tyr348Cys)
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) rs28936676
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.1108_1119del (p.Gly370_Trp373del)
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) rs2101902523
NM_001122764.3(PPOX):c.1291+1G>T rs1571418365
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=) rs1661206662
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr) rs1661220672
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.313dup (p.Leu105fs)
NM_001122764.3(PPOX):c.338+9A>G rs886045453
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)
NM_001122764.3(PPOX):c.522C>T (p.Asn174=) rs886045454
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) rs1571357779
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe) rs1659928956
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.62T>A (p.Leu21Gln)
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) rs2101876868
NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.69G>T (p.Arg23=) rs886045452
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
NM_001122764.3(PPOX):c.869-3_869-2del rs1558033572
NM_001122764.3(PPOX):c.87+1G>A
PPOX, IVS11DS, G-A, -1

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