ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_000097.7(CPOX):c.*1072C>T rs148251059
NM_000097.7(CPOX):c.*1105A>G rs73133922
NM_000097.7(CPOX):c.*136G>C rs142440038
NM_000097.7(CPOX):c.*162A>C rs1051712
NM_000097.7(CPOX):c.*195T>C
NM_000097.7(CPOX):c.*227G>A rs146214523
NM_000097.7(CPOX):c.*329G>C rs72924727
NM_000097.7(CPOX):c.*381C>T rs141236816
NM_000097.7(CPOX):c.*475T>A rs72924726
NM_000097.7(CPOX):c.*578_*579insTTCTTA rs3840202
NM_000097.7(CPOX):c.*595C>A
NM_000097.7(CPOX):c.*679G>A rs72924722
NM_000097.7(CPOX):c.*73T>C rs139447447
NM_000097.7(CPOX):c.*927G>A rs7103
NM_000097.7(CPOX):c.*95G>A rs2229123
NM_000097.7(CPOX):c.-54C>T rs75986763
NM_000097.7(CPOX):c.-55G>C rs115030377
NM_000097.7(CPOX):c.-56G>C rs184287214
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys) rs11921054
NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu) rs778583962
NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu)
NM_000097.7(CPOX):c.1149G>A (p.Leu383=)
NM_000097.7(CPOX):c.1172+14A>G rs16839985
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822
NM_000097.7(CPOX):c.212G>C (p.Gly71Ala)
NM_000097.7(CPOX):c.252G>A (p.Gly84=) rs376917019
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456
NM_000097.7(CPOX):c.299A>T (p.Glu100Val) rs367822877
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713
NM_000097.7(CPOX):c.33C>T (p.Gly11=) rs60690253
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463
NM_000097.7(CPOX):c.510A>G (p.Val170=)
NM_000097.7(CPOX):c.520G>A (p.Ala174Thr)
NM_000097.7(CPOX):c.556+9G>A rs184983281
NM_000097.7(CPOX):c.557-3C>T
NM_000097.7(CPOX):c.612G>A (p.Gly204=) rs149384011
NM_000097.7(CPOX):c.651A>G (p.Glu217=) rs138479596
NM_000097.7(CPOX):c.766A>G (p.Thr256Ala)
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.7(CPOX):c.880G>A (p.Val294Ile) rs2228056
NM_000097.7(CPOX):c.954-15C>T
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995

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