List of variants in gene CPOX reported as benign for Hereditary coproporphyria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000097.7(CPOX):c.990A>G (p.Glu330=)	rs1729995	0.74986
NM_000097.7(CPOX):c.*162A>C	rs1051712	0.32562
NM_000097.7(CPOX):c.*927G>A	rs7103	0.30903
NM_000097.7(CPOX):c.814A>C (p.Asn272His)	rs1131857	0.24099
NM_000097.7(CPOX):c.880G>A (p.Val294Ile)	rs2228056	0.07407
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)	rs11921054	0.04947
NM_000097.7(CPOX):c.*679G>A	rs72924722	0.03180
NM_000097.7(CPOX):c.*329G>C	rs72924727	0.02333
NM_000097.7(CPOX):c.*475T>A	rs72924726	0.02330
NM_000097.7(CPOX):c.*73T>C	rs139447447	0.01421
NM_000097.7(CPOX):c.1172+14A>G	rs16839985	0.00862
NM_000097.7(CPOX):c.*1072C>T	rs148251059	0.00666
NM_000097.7(CPOX):c.*1105A>G	rs73133922	0.00607
NM_000097.7(CPOX):c.*595C>A	rs183311654	0.00442
NM_000097.7(CPOX):c.*227G>A	rs146214523	0.00330
NM_000097.7(CPOX):c.*136G>C	rs142440038	0.00243
NM_000097.7(CPOX):c.*195T>C	rs139248891	0.00215
NM_000097.7(CPOX):c.556+9G>A	rs184983281	0.00193
NM_000097.7(CPOX):c.395C>T (p.Ala132Val)	rs147219463	0.00043
NM_000097.7(CPOX):c.*95G>A	rs2229123	0.00037
NM_000097.7(CPOX):c.*381C>T	rs141236816	0.00032
NM_000097.7(CPOX):c.954-15C>T	rs200327383	0.00023
NM_000097.7(CPOX):c.510A>G (p.Val170=)	rs200869871	0.00017
NM_000097.7(CPOX):c.520G>A (p.Ala174Thr)	rs199514514	0.00016
NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu)	rs201231166	0.00003
NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu)	rs778583962	0.00002
NM_000097.7(CPOX):c.557-3C>T	rs750156215	0.00002
NM_000097.7(CPOX):c.1149G>A (p.Leu383=)	rs533745033	0.00001
NM_000097.7(CPOX):c.766A>G (p.Thr256Ala)	rs77432735	0.00001
NM_000097.7(CPOX):c.578_579insTTCTTA	rs3840202
NM_000097.7(CPOX):c.612G>A (p.Gly204=)	rs149384011
NM_000097.7(CPOX):c.651A>G (p.Glu217=)	rs138479596

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