ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155 0.00005
NM_000097.7(CPOX):c.1172+7G>A rs778215224 0.00002
NM_000097.7(CPOX):c.1028A>T (p.Asp343Val) rs201071538 0.00001
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.487G>T (p.Val163Leu) rs535432218

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