ClinVar Miner

List of variants in gene CPOX reported as uncertain significance for hepatic porphyria

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000097.7(CPOX):c.*939A>G rs539237301 0.00051
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000097.7(CPOX):c.*340A>G rs886058945 0.00017
NM_000097.7(CPOX):c.*1046A>G rs763864217 0.00015
NM_000097.7(CPOX):c.*506C>T rs886058943 0.00013
NM_000097.7(CPOX):c.*712T>C rs893225316 0.00011
NM_000097.7(CPOX):c.*1174G>A rs886058940 0.00010
NM_000097.7(CPOX):c.*498_*499insCA rs886058944 0.00010
NM_000097.7(CPOX):c.1173G>T (p.Arg391=) rs374136925 0.00003
NM_000097.7(CPOX):c.*66G>A rs886058947 0.00002
NM_000097.7(CPOX):c.*194G>T rs886058946 0.00001
NM_000097.7(CPOX):c.*351A>G rs1354893013 0.00001
NM_000097.7(CPOX):c.*516A>C rs1402867317 0.00001
NM_000097.7(CPOX):c.*633A>C rs886058942 0.00001
NM_000097.7(CPOX):c.*1076G>A rs775384142
NM_000097.7(CPOX):c.*1153G>C rs886058941
NM_000097.7(CPOX):c.*183A>G rs1707237180
NM_000097.7(CPOX):c.*745A>G rs1707219701
NM_000097.7(CPOX):c.1230A>G (p.Pro410=) rs1707257247
NM_000097.7(CPOX):c.348GGA[7] (p.Glu119_Glu120dup) rs749870062
NM_000097.7(CPOX):c.458A>T (p.Glu153Val) rs1707510560
NM_000097.7(CPOX):c.474G>C (p.Glu158Asp) rs1707510266
NM_000097.7(CPOX):c.530C>T (p.Ser177Phe) rs1707508760
NM_000097.7(CPOX):c.811+14G>A rs1707460318

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