ClinVar Miner

List of variants in gene CPOX studied for porphyria

Included ClinVar conditions (23):
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Gene type:
ClinVar version:
Total variants: 70
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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.*939A>G rs539237301 0.00051
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.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000097.7(CPOX):c.954-15C>T rs200327383 0.00023
NM_000097.7(CPOX):c.*340A>G rs886058945 0.00017
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.*1046A>G rs763864217 0.00015
NM_000097.7(CPOX):c.*498_*499insCA rs886058944 0.00013
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.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155 0.00005
NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu) rs201231166 0.00003
NM_000097.7(CPOX):c.1173G>T (p.Arg391=) rs374136925 0.00003
NM_000097.7(CPOX):c.601G>A (p.Glu201Lys) rs1374394802 0.00003
NM_000097.7(CPOX):c.*66G>A rs886058947 0.00002
NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu) rs778583962 0.00002
NM_000097.7(CPOX):c.1172+7G>A rs778215224 0.00002
NM_000097.7(CPOX):c.1277+3A>G rs370245685 0.00002
NM_000097.7(CPOX):c.557-3C>T rs750156215 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.1028A>T (p.Asp343Val) rs201071538 0.00001
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.*1076G>A rs775384142
NM_000097.7(CPOX):c.*1153G>C rs886058941
NM_000097.7(CPOX):c.*183A>G rs1707237180
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.*578_*579insTTCTTA rs3840202
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.478C>T (p.Gln160Ter) rs1576306536
NM_000097.7(CPOX):c.487G>T (p.Val163Leu) rs535432218
NM_000097.7(CPOX):c.488_509delinsAGCTGCTGATTCTGG (p.Val163fs)
NM_000097.7(CPOX):c.530C>T (p.Ser177Phe) rs1707508760
NM_000097.7(CPOX):c.612G>A (p.Gly204=) rs149384011
NM_000097.7(CPOX):c.651A>G (p.Glu217=) rs138479596
NM_000097.7(CPOX):c.700+2T>C rs1576304776
NM_000097.7(CPOX):c.811+14G>A rs1707460318
NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)
NM_000097.7(CPOX):c.980A>G (p.His327Arg) rs587777271
NM_000097.7(CPOX):c.991C>T (p.Arg331Trp) rs121917866

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