ClinVar Miner

List of variants in gene CPOX reported as uncertain significance for acute hepatic porphyria

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000097.7(CPOX):c.*1076G>A rs775384142
NM_000097.7(CPOX):c.*1153G>C rs886058941
NM_000097.7(CPOX):c.*1174G>A rs886058940
NM_000097.7(CPOX):c.*194G>T rs886058946
NM_000097.7(CPOX):c.*340A>G rs886058945
NM_000097.7(CPOX):c.*498_*499insCA rs886058944
NM_000097.7(CPOX):c.*506C>T rs886058943
NM_000097.7(CPOX):c.*633A>C rs886058942
NM_000097.7(CPOX):c.*66G>A rs886058947
NM_000097.7(CPOX):c.-10G>A rs867711777
NM_000097.7(CPOX):c.-43G>C rs763595872
NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu) rs778583962
NM_000097.7(CPOX):c.125G>C (p.Ser42Thr) rs886058951
NM_000097.7(CPOX):c.130G>T (p.Ala44Ser) rs886058950
NM_000097.7(CPOX):c.156C>G (p.Gly52=) rs886058949
NM_000097.7(CPOX):c.167C>T (p.Thr56Met) rs886058948
NM_000097.7(CPOX):c.299A>T (p.Glu100Val) rs367822877
NM_000097.7(CPOX):c.348G>C (p.Pro116=) rs140566686
NM_000097.7(CPOX):c.487G>T (p.Val163Leu) rs535432218
NM_000097.7(CPOX):c.651A>G (p.Glu217=) rs138479596
NM_000097.7(CPOX):c.86A>C (p.Gln29Pro) rs886058952

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