ClinVar Miner

List of variants in gene combination CPOX, LOC129937121 reported as benign for porphyria

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000097.7(CPOX):c.33C>T (p.Gly11=) rs60690253 0.05919
NM_000097.7(CPOX):c.-55G>C rs115030377 0.01010
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456 0.00819
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713 0.00770
NM_000097.7(CPOX):c.252G>A (p.Gly84=) rs376917019 0.00646
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822 0.00634
NM_000097.7(CPOX):c.-54C>T rs75986763 0.00193
NM_000097.7(CPOX):c.212G>C (p.Gly71Ala) rs572522263 0.00143
NM_000097.7(CPOX):c.-56G>C rs184287214 0.00041
NM_000097.7(CPOX):c.299A>T (p.Glu100Val) rs367822877 0.00011

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