ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000097.5(CPOX):c.*162A>C rs1051712
NM_000097.5(CPOX):c.*329G>C rs72924727
NM_000097.5(CPOX):c.*475T>A rs72924726
NM_000097.5(CPOX):c.*578_*579insTTCTTA rs3840202
NM_000097.5(CPOX):c.*679G>A rs72924722
NM_000097.5(CPOX):c.*927G>A rs7103
NM_000097.5(CPOX):c.1054C>T (p.Arg352Cys) rs11921054
NM_000097.5(CPOX):c.33C>T (p.Gly11=) rs60690253
NM_000097.5(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.5(CPOX):c.880G>A (p.Val294Ile) rs2228056
NM_000097.5(CPOX):c.990A>G (p.Glu330=) rs1729995

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