ClinVar Miner

List of variants in gene CPOX reported as likely benign 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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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.*227G>A rs146214523
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.*381C>T rs141236816
NM_000097.7(CPOX):c.*73T>C rs139447447
NM_000097.7(CPOX):c.*939A>G rs539237301
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.1172+14A>G rs16839985
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822
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.337C>T (p.Leu113=) rs146543713
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463
NM_000097.7(CPOX):c.556+9G>A rs184983281
NM_000097.7(CPOX):c.612G>A (p.Gly204=) rs149384011

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