ClinVar Miner

List of variants reported as benign for porphyria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.*2526T>C rs2723680 0.99842
NM_000140.5(FECH):c.*2825A>G rs8090261 0.99840
NM_000031.6(ALAD):c.*1950G>A rs818706 0.82956
NM_000140.5(FECH):c.*4563G>T rs663774 0.76588
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995 0.74986
NM_000140.5(FECH):c.921A>G (p.Pro307=) rs536560 0.74784
NM_000190.4(HMBS):c.88-14G>A rs17075 0.61715
NM_000031.6(ALAD):c.*471C>T rs818708 0.56706
NM_000375.3(UROS):c.-219C>A rs4385801 0.41780
NM_000375.3(UROS):c.-185G>A rs4256900 0.41165
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_001382.4(DPAGT1):c.*184G>A rs8551 0.37865
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488 0.35967
NM_000190.4(HMBS):c.-65C>T rs589925 0.34900
NM_001122764.3(PPOX):c.-247C>A rs2301286 0.34791
NM_000097.7(CPOX):c.*162A>C rs1051712 0.32562
NM_000097.7(CPOX):c.*927G>A rs7103 0.30903
NM_001382.4(DPAGT1):c.*417T>C rs7759 0.29923
NM_000140.5(FECH):c.*4886T>G rs7238897 0.27283
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857 0.24099
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488 0.23280
NM_000140.5(FECH):c.*248C>T rs8339 0.21849
NM_000140.5(FECH):c.*3377G>T rs480942 0.11174
NM_000140.5(FECH):c.287G>A (p.Arg96Gln) rs1041951 0.10933
NM_000140.5(FECH):c.*2371T>G rs1062010 0.10588
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807 0.08960
NM_000031.6(ALAD):c.*613G>A rs818707 0.08941
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084 0.08811
NM_000031.6(ALAD):c.397+12C>T rs8177805 0.08288
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083 0.08221
NM_000097.7(CPOX):c.880G>A (p.Val294Ile) rs2228056 0.07407
NM_000097.7(CPOX):c.33C>T (p.Gly11=) rs60690253 0.05919
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys) rs11921054 0.04947
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429 0.04522
NM_000140.5(FECH):c.*2739T>C rs111695226 0.03343
NM_000097.7(CPOX):c.*679G>A rs72924722 0.03180
NM_000140.5(FECH):c.*4463A>G rs7228449 0.03133
NM_000140.5(FECH):c.*3601A>G rs73453635 0.02742
NM_000097.7(CPOX):c.*329G>C rs72924727 0.02333
NM_000097.7(CPOX):c.*475T>A rs72924726 0.02330
NM_000140.5(FECH):c.*117C>T rs8099115 0.02200
NM_000140.5(FECH):c.*4971A>G rs114530851 0.02076
NM_000031.6(ALAD):c.*1737T>C rs11556126 0.01954
NM_000140.5(FECH):c.*2451T>G rs55769459 0.01852
NM_000140.5(FECH):c.*1622T>C rs78359676 0.01713
NM_000140.5(FECH):c.*696C>T rs76175837 0.01710
NM_000140.5(FECH):c.*422T>A rs3760612 0.01705
NM_000140.5(FECH):c.*481A>G rs3760613 0.01701
NM_000140.5(FECH):c.*5588G>A rs78224804 0.01585
NM_000097.7(CPOX):c.*73T>C rs139447447 0.01421
NM_000031.6(ALAD):c.398-13A>G rs34009418 0.01082
NM_000097.7(CPOX):c.-55G>C rs115030377 0.01010
NM_000097.7(CPOX):c.1172+14A>G rs16839985 0.00862
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_000140.5(FECH):c.*4106A>G rs72940306 0.00744
NM_000097.7(CPOX):c.*1072C>T rs148251059 0.00666
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.*1105A>G rs73133922 0.00607
NM_000375.3(UROS):c.*37G>T rs372132511 0.00489
NM_000097.7(CPOX):c.*595C>A rs183311654 0.00442
NM_000375.3(UROS):c.338A>T (p.Asp113Val) rs117926090 0.00376
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.-54C>T rs75986763 0.00193
NM_000097.7(CPOX):c.556+9G>A rs184983281 0.00193
NM_000097.7(CPOX):c.212G>C (p.Gly71Ala) rs572522263 0.00143
NM_000190.4(HMBS):c.210+5C>A rs79983883 0.00102
NM_000375.3(UROS):c.-136C>T rs539482783 0.00096
NM_000140.5(FECH):c.598+12T>A rs370521491 0.00071
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283 0.00070
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331 0.00057
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463 0.00043
NM_000097.7(CPOX):c.-56G>C rs184287214 0.00041
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995 0.00039
NM_000097.7(CPOX):c.*95G>A rs2229123 0.00037
NM_000031.6(ALAD):c.*813A>G rs138705750 0.00033
NM_000097.7(CPOX):c.*381C>T rs141236816 0.00032
NM_000031.6(ALAD):c.72C>T (p.Thr24=) rs1805314 0.00029
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) rs138776835 0.00028
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.299A>T (p.Glu100Val) rs367822877 0.00011
NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu) rs201231166 0.00003
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408 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_000031.6(ALAD):c.*871C>A rs8177822
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
NM_000140.5(FECH):c.*1287_*1288insTA rs59569925
NM_000140.5(FECH):c.*2461dup rs529946604
NM_000140.5(FECH):c.*4891dup rs146687823
NM_000140.5(FECH):c.*5628C>A rs13732
NM_000140.5(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.5(FECH):c.913-7C>T rs369538477
NM_000375.3(UROS):c.512T>G (p.Val171Gly) rs17173752

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