ClinVar Miner

List of variants studied for hepatic porphyria

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 613
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HGVS dbSNP gnomAD frequency
NM_006660.5(CLPX):c.1146+13G>A rs2946670 0.99995
NM_000140.5(FECH):c.*2526T>C rs2723680 0.99842
NM_000140.5(FECH):c.*2825A>G rs8090261 0.99840
NM_000140.5(FECH):c.314+23A>G rs577152 0.98504
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_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_001382.4(DPAGT1):c.*184G>A rs8551 0.37865
NM_000140.5(FECH):c.*1287T>A rs113654252 0.36364
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.68-23C>T rs2269219 0.27629
NM_000140.5(FECH):c.*4886T>G rs7238897 0.26760
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.*2446G>T rs4940895 0.12042
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_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
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_000140.5(FECH):c.315-48T>C rs2272783 0.06200
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_001122764.3(PPOX):c.-128C>G rs72714915 0.05168
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys) rs11921054 0.04947
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04800
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429 0.04522
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000374.5(UROD):c.-134T>G rs7536892 0.03627
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_000031.5(ALAD):c.-177C>T rs28550589 0.02747
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 0.01725
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.*3170T>C rs75976774 0.01670
NM_000140.5(FECH):c.*5588G>A rs78224804 0.01585
NM_001122764.3(PPOX):c.-151G>T rs115158839 0.01570
NM_000140.5(FECH):c.*571G>A rs114617188 0.01460
NM_000097.7(CPOX):c.*73T>C rs139447447 0.01421
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_000031.6(ALAD):c.*1811_*1812del rs142213018 0.01239
NM_000031.6(ALAD):c.398-13A>G rs34009418 0.01082
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000140.5(FECH):c.*892T>C rs13271 0.01039
NM_000097.7(CPOX):c.-55G>C rs115030377 0.01010
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00979
NM_000374.5(UROD):c.*3G>A rs74349352 0.00902
NM_000097.7(CPOX):c.1172+14A>G rs16839985 0.00862
NM_000140.5(FECH):c.*5801T>G rs139119026 0.00849
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456 0.00819
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713 0.00770
NM_000140.5(FECH):c.*4106A>G rs72940306 0.00744
NM_000140.5(FECH):c.*5394G>T rs145935279 0.00711
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00672
NM_000097.7(CPOX):c.*1072C>T rs148251059 0.00666
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
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_000140.5(FECH):c.*4458C>T rs113000324 0.00623
NM_000097.7(CPOX):c.*1105A>G rs73133922 0.00607
NM_000140.5(FECH):c.*3841C>T rs143797631 0.00586
NM_000140.5(FECH):c.*4883_*4884insC rs201434287 0.00582
NM_000374.5(UROD):c.952G>A (p.Gly318Arg) rs116233118 0.00531
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115 0.00527
NM_000374.5(UROD):c.450G>A (p.Pro150=) rs2234479 0.00475
NM_000097.7(CPOX):c.*595C>A rs183311654 0.00442
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_000140.5(FECH):c.*2441G>T rs886053982 0.00424
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_000031.6(ALAD):c.468G>A (p.Ala156=) rs41305619 0.00348
NM_000097.7(CPOX):c.*227G>A rs146214523 0.00330
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00320
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_000140.5(FECH):c.*5140G>A rs55987829 0.00301
NM_000140.5(FECH):c.*1479T>C rs112062178 0.00287
NM_000140.5(FECH):c.*3567G>A rs556538397 0.00273
NM_000031.6(ALAD):c.*317T>G rs538745327 0.00245
NM_000097.7(CPOX):c.*136G>C rs142440038 0.00243
NM_000140.5(FECH):c.*4597T>C rs147684323 0.00237
NM_000140.5(FECH):c.*2788G>A rs145954113 0.00234
NM_000031.6(ALAD):c.*771C>T rs149384214 0.00230
NM_001122764.3(PPOX):c.-246G>T rs114493458 0.00229
NM_000097.7(CPOX):c.*195T>C rs139248891 0.00215
NM_000140.5(FECH):c.*936C>T rs144709743 0.00200
NM_000031.6(ALAD):c.15C>T (p.Ser5=) rs144608303 0.00195
NM_000097.7(CPOX):c.-54C>T rs75986763 0.00193
NM_000097.7(CPOX):c.556+9G>A rs184983281 0.00193
NM_000140.5(FECH):c.*347G>A rs113392534 0.00192
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_000031.6(ALAD):c.*363G>A rs576008526 0.00175
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_000140.5(FECH):c.*4056C>T rs181920623 0.00166
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_000140.5(FECH):c.*3339G>A rs113928110 0.00159
NM_000097.7(CPOX):c.212G>C (p.Gly71Ala) rs572522263 0.00143
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) rs112762537 0.00140
NM_000374.4(UROD):c.-52C>A rs41269103 0.00136
NM_000140.5(FECH):c.185C>G (p.Pro62Arg) rs150830931 0.00124
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) rs190528998 0.00115
NM_000031.6(ALAD):c.*1803A>G rs41276803 0.00113
NM_000140.5(FECH):c.*4367C>T rs146417207 0.00112
NM_000031.6(ALAD):c.*400G>A rs557867804 0.00110
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000140.5(FECH):c.*3804G>A rs190604320 0.00107
NM_001122764.3(PPOX):c.87+13C>T rs201155115 0.00103
NM_000190.4(HMBS):c.210+5C>A rs79983883 0.00102
NM_000410.4(HFE):c.502G>C (p.Glu168Gln) rs146519482 0.00102
NM_000140.5(FECH):c.*5143C>T rs139987131 0.00101
NM_000140.5(FECH):c.*4829C>T rs565989254 0.00093
NM_000374.5(UROD):c.474+15G>C rs369108963 0.00076
NM_000410.4(HFE):c.18G>C (p.Arg6Ser) rs149342416 0.00072
NM_000140.5(FECH):c.598+12T>A rs370521491 0.00071
NM_001122764.3(PPOX):c.617-6C>T rs200192089 0.00071
NM_000190.4(HMBS):c.135G>A (p.Ser45=) rs146801283 0.00070
NM_000140.5(FECH):c.*1915G>T rs148459563 0.00067
NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys) rs190919484 0.00067
NM_000410.4(HFE):c.*603C>T rs62625353 0.00063
NM_000140.5(FECH):c.*5090G>A rs776370345 0.00060
NM_000031.6(ALAD):c.-131C>T rs531786276 0.00058
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) rs146585331 0.00057
NM_000031.6(ALAD):c.*1464A>G rs559359572 0.00053
NM_000140.5(FECH):c.*4445G>A rs578202706 0.00053
NM_000097.7(CPOX):c.*939A>G rs539237301 0.00051
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_000140.5(FECH):c.*1508G>A rs540286571 0.00048
NM_000410.4(HFE):c.*198C>T rs544604880 0.00048
NM_000140.5(FECH):c.*1567A>G rs574153215 0.00044
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463 0.00043
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000031.6(ALAD):c.715-14C>A rs201135240 0.00041
NM_000097.7(CPOX):c.-56G>C rs184287214 0.00041
NM_000031.6(ALAD):c.*1473G>A rs1062685 0.00040
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995 0.00039
NM_000031.6(ALAD):c.*422G>T rs41276805 0.00038
NM_000140.5(FECH):c.*3129C>T rs137955859 0.00038
NM_000097.7(CPOX):c.*95G>A rs2229123 0.00037
NM_001122764.3(PPOX):c.471+3G>A rs200920978 0.00037
NM_000140.5(FECH):c.*1032G>A rs140863287 0.00034
NM_000140.5(FECH):c.*2443T>G rs201834035 0.00034
NM_000031.6(ALAD):c.*813A>G rs138705750 0.00033
NM_000190.4(HMBS):c.*101G>A rs565181447 0.00033
NM_001122764.3(PPOX):c.-251G>C rs368129128 0.00033
NM_000097.7(CPOX):c.*381C>T rs141236816 0.00032
NM_000374.5(UROD):c.442C>T (p.Arg148Cys) rs147374926 0.00032
NM_000031.6(ALAD):c.72C>T (p.Thr24=) rs1805314 0.00029
NM_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) rs138776835 0.00028
NM_000374.5(UROD):c.774+12G>A rs186269864 0.00027
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000031.6(ALAD):c.-75-11A>G rs187909805 0.00024
NM_000140.5(FECH):c.*394C>G rs781751487 0.00024
NM_000140.5(FECH):c.*4077C>T rs548648988 0.00024
NM_000031.6(ALAD):c.*1381G>A rs140946306 0.00023
NM_000097.7(CPOX):c.954-15C>T rs200327383 0.00023
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) rs142459647 0.00023
NM_000031.5(ALAD):c.-156C>A rs562413861 0.00022
NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) rs199655229 0.00022
NM_000140.5(FECH):c.913-13A>G rs200538834 0.00022
NM_000031.6(ALAD):c.874G>A (p.Gly292Arg) rs200781693 0.00021
NM_000374.4(UROD):c.*80A>G rs144315045 0.00021
NM_001122764.3(PPOX):c.-1C>T rs148045152 0.00021
NM_000140.5(FECH):c.*1054T>C rs192343321 0.00020
NM_000374.5(UROD):c.390G>T (p.Glu130Asp) rs138585833 0.00020
NM_000031.6(ALAD):c.*1832T>C rs903858525 0.00019
NM_000031.6(ALAD):c.277G>A (p.Ala93Thr) rs138313868 0.00019
NM_000097.7(CPOX):c.*340A>G rs886058945 0.00017
NM_000097.7(CPOX):c.510A>G (p.Val170=) rs200869871 0.00017
NM_000031.6(ALAD):c.724G>A (p.Val242Ile) rs200180791 0.00016
NM_000097.7(CPOX):c.520G>A (p.Ala174Thr) rs199514514 0.00016
NM_000140.5(FECH):c.*2644A>G rs558443758 0.00016
NM_000140.5(FECH):c.*4720T>C rs760022638 0.00016
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) rs199845143 0.00016
NM_000374.4(UROD):c.-51T>C rs370067756 0.00016
NM_000031.6(ALAD):c.678G>T (p.Leu226=) rs190497588 0.00015
NM_000097.7(CPOX):c.*1046A>G rs763864217 0.00015
NM_000140.5(FECH):c.132C>T (p.Ala44=) rs147500247 0.00015
NM_000140.5(FECH):c.*2450_*2451insG rs886053980 0.00014
NM_000140.5(FECH):c.139A>G (p.Thr47Ala) rs144831860 0.00014
NM_000097.7(CPOX):c.*506C>T rs886058943 0.00013
NM_000140.5(FECH):c.819C>T (p.Gly273=) rs138840143 0.00013
NM_000031.6(ALAD):c.264C>T (p.Asp88=) rs377534006 0.00012
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277 0.00012
NM_000031.6(ALAD):c.940A>G (p.Ile314Val) rs557510313 0.00011
NM_000097.7(CPOX):c.*712T>C rs893225316 0.00011
NM_000097.7(CPOX):c.299A>T (p.Glu100Val) rs367822877 0.00011
NM_000140.5(FECH):c.*2079C>T rs886053983 0.00011
NM_000140.5(FECH):c.*2782G>T rs886053975 0.00011
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170 0.00011
NM_000031.5(ALAD):c.-197G>T rs376588496 0.00010
NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys) rs769181980 0.00010
NM_000031.6(ALAD):c.784C>T (p.Arg262Trp) rs777485356 0.00010
NM_000097.7(CPOX):c.*1174G>A rs886058940 0.00010
NM_000097.7(CPOX):c.*498_*499insCA rs886058944 0.00010
NM_000140.5(FECH):c.385G>A (p.Gly129Arg) rs138714094 0.00010
NM_000374.5(UROD):c.158A>G (p.Gln53Arg) rs199597323 0.00010
NM_000374.5(UROD):c.745C>T (p.Arg249Trp) rs137978913 0.00010
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00009
NM_000140.5(FECH):c.*1950A>G rs886053985 0.00009
NM_000140.5(FECH):c.*1966G>T rs779669357 0.00009
NM_000190.4(HMBS):c.612+4G>A rs745705652 0.00009
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) rs148730591 0.00009
NM_000140.5(FECH):c.*3691C>T rs148141502 0.00008
NM_000190.4(HMBS):c.798C>T (p.Ala266=) rs375078473 0.00008
NM_000140.5(FECH):c.*5349C>T rs189146107 0.00007
NM_000140.5(FECH):c.820G>A (p.Asp274Asn) rs146269992 0.00007
NM_000140.5(FECH):c.959A>G (p.Lys320Arg) rs371224528 0.00007
NM_000031.5(ALAD):c.-160_-159insA rs886063365 0.00006
NM_000031.6(ALAD):c.16G>A (p.Val6Ile) rs766501537 0.00006
NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) rs777664535 0.00006
NM_000031.6(ALAD):c.501G>A (p.Pro167=) rs376714503 0.00006
NM_000097.7(CPOX):c.-86C>T rs983628005 0.00006
NM_000097.7(CPOX):c.47T>G (p.Val16Gly) rs941183666 0.00006
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) rs150146721 0.00006
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) rs148084355 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000374.5(UROD):c.*45C>T rs371078664 0.00006
NM_000374.5(UROD):c.27G>C (p.Gln9His) rs150027651 0.00006
NM_001122764.3(PPOX):c.1248+4A>G rs775748399 0.00006
NM_001122764.3(PPOX):c.936G>A (p.Val312=) rs751511778 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_000031.6(ALAD):c.870G>A (p.Gln290=) rs759917153 0.00005
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155 0.00005
NM_000140.5(FECH):c.*2060C>T rs886053984 0.00005
NM_000140.5(FECH):c.*2600G>A rs886053976 0.00005
NM_000140.5(FECH):c.*3716C>T rs567960865 0.00005
NM_000140.5(FECH):c.*4449A>G rs886053968 0.00005
NM_000140.5(FECH):c.*5247T>C rs375220859 0.00005
NM_000190.4(HMBS):c.737G>A (p.Arg246His) rs201909197 0.00005
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677 0.00005
NM_000031.6(ALAD):c.*643G>T rs182766085 0.00004
NM_000031.6(ALAD):c.-70G>T rs774433320 0.00004
NM_000031.6(ALAD):c.241G>A (p.Val81Ile) rs200963049 0.00004
NM_000031.6(ALAD):c.692G>A (p.Arg231Gln) rs201420740 0.00004
NM_000031.6(ALAD):c.801+14C>T rs369933664 0.00004
NM_000140.5(FECH):c.*2599C>T rs886053977 0.00004
NM_000140.5(FECH):c.*3656C>T rs886053974 0.00004
NM_000140.5(FECH):c.*4528C>T rs564734119 0.00004
NM_000140.5(FECH):c.*60T>C rs886053996 0.00004
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp) rs769409620 0.00004
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817 0.00004
NM_000190.4(HMBS):c.885G>A (p.Met295Ile) rs749688624 0.00004
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) rs746707121 0.00004
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) rs781674367 0.00004
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) rs770086296 0.00004
NM_000374.5(UROD):c.578G>A (p.Arg193His) rs143823335 0.00004
NM_000410.4(HFE):c.1006+1G>A rs573745685 0.00004
NM_000410.4(HFE):c.676C>T (p.Arg226Trp) rs781516027 0.00004
NM_001122764.3(PPOX):c.-211C>A rs140693401 0.00004
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) rs772971420 0.00004
NM_000031.6(ALAD):c.*381G>A rs886063363 0.00003
NM_000031.6(ALAD):c.-76+15G>T rs756965057 0.00003
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_000140.5(FECH):c.*2513G>A rs886053978 0.00003
NM_000140.5(FECH):c.*3719C>T rs886053973 0.00003
NM_000140.5(FECH):c.*3788A>G rs886053971 0.00003
NM_000140.5(FECH):c.*4336A>G rs769571284 0.00003
NM_000140.5(FECH):c.*4337G>A rs747976113 0.00003
NM_000140.5(FECH):c.*4363G>A rs375097125 0.00003
NM_000140.5(FECH):c.202A>G (p.Lys68Glu) rs756377185 0.00003
NM_000140.5(FECH):c.314+2T>G rs149067146 0.00003
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408 0.00003
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) rs761810461 0.00003
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_001122764.3(PPOX):c.-149G>T rs186428034 0.00003
NM_000031.6(ALAD):c.*127C>T rs561104906 0.00002
NM_000031.6(ALAD):c.*498C>T rs1025631016 0.00002
NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) rs752186527 0.00002
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.167C>T (p.Thr56Met) rs886058948 0.00002
NM_000097.7(CPOX):c.178C>G (p.Arg60Gly) rs780436492 0.00002
NM_000097.7(CPOX):c.557-3C>T rs750156215 0.00002
NM_000140.5(FECH):c.913G>T (p.Val305Phe) rs765518889 0.00002
NM_000190.4(HMBS):c.105G>C (p.Thr35=) rs370081222 0.00002
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) rs368061837 0.00002
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys) rs189159450 0.00002
NM_000374.4(UROD):c.-67G>A rs767012968 0.00002
NM_000410.4(HFE):c.546_547del (p.Leu183fs) rs765804978 0.00002
NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys) rs751599052 0.00002
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) rs145286580 0.00002
NM_000031.6(ALAD):c.*1511T>C rs745513769 0.00001
NM_000031.6(ALAD):c.*1631G>A rs886063359 0.00001
NM_000031.6(ALAD):c.-4C>T rs755977870 0.00001
NM_000031.6(ALAD):c.474C>G (p.Ala158=) rs1340298448 0.00001
NM_000031.6(ALAD):c.521G>A (p.Arg174His) rs750462706 0.00001
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982 0.00001
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983 0.00001
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981 0.00001
NM_000031.6(ALAD):c.897C>T (p.Ala299=) rs370242589 0.00001
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.-43G>C rs763595872 0.00001
NM_000097.7(CPOX):c.-87C>T rs908936882 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.348G>C (p.Pro116=) rs140566686 0.00001
NM_000097.7(CPOX):c.766A>G (p.Thr256Ala) rs77432735 0.00001
NM_000140.3(FECH):c.1078_1137del rs879255507 0.00001
NM_000140.5(FECH):c.*4237A>G rs886053969 0.00001
NM_000140.5(FECH):c.*443A>C rs886053994 0.00001
NM_000140.5(FECH):c.*55C>T rs886053997 0.00001
NM_000140.5(FECH):c.1078-6A>G rs2050796264 0.00001
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr) rs1324421474 0.00001
NM_000140.5(FECH):c.514G>A (p.Glu172Lys) rs200650502 0.00001
NM_000140.5(FECH):c.599-3C>T rs765069812 0.00001
NM_000140.5(FECH):c.854A>G (p.Gln285Arg) rs370708663 0.00001
NM_000140.5(FECH):c.912+14A>G rs886053999 0.00001
NM_000140.5(FECH):c.935G>T (p.Gly312Val) rs886053998 0.00001
NM_000190.4(HMBS):c.*194A>G rs886047756 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.345-9C>T rs772934410 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) rs1165046276 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.768C>A (p.His256Gln) rs758794172 0.00001
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) rs1057519252 0.00001
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) rs772616498 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NM_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 0.00001
NM_000374.5(UROD):c.346C>T (p.Gln116Ter) rs397514765 0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063 0.00001
NM_000374.5(UROD):c.561T>C (p.Ala187=) rs780519904 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000374.5(UROD):c.679C>G (p.Gln227Glu) rs546150911 0.00001
NM_000374.5(UROD):c.738C>T (p.Ala246=) rs757178659 0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000410.4(HFE):c.766G>A (p.Val256Ile) rs202068193 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_001122764.3(PPOX):c.-180T>C rs886045450 0.00001
NM_001122764.3(PPOX):c.-2G>T rs779526273 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) rs754313121 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001122764.3(PPOX):c.597G>T (p.Leu199=) rs769659160 0.00001
NM_001122764.3(PPOX):c.646A>G (p.Ile216Val) rs758572020 0.00001
NM_005689.4(ABCB6):c.2185G>A (p.Gly729Ser) rs541845688 0.00001
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000031.5(ALAD):c.-155C>G rs7026518
NM_000031.5(ALAD):c.-157_-156insCG rs879417667
NM_000031.5(ALAD):c.-162_-159dup rs143518565
NM_000031.5(ALAD):c.-162_-161dup rs143518565
NM_000031.5(ALAD):c.-162dup rs143518565
NM_000031.6(ALAD):c.*1007G>A rs8177823
NM_000031.6(ALAD):c.*106C>G rs8177820
NM_000031.6(ALAD):c.*1280G>A rs190137021
NM_000031.6(ALAD):c.*1280G>C rs190137021
NM_000031.6(ALAD):c.*12C>T rs1827462434
NM_000031.6(ALAD):c.*1322G>A rs11789221
NM_000031.6(ALAD):c.*1470G>A rs886063360
NM_000031.6(ALAD):c.*1671A>T rs1827403039
NM_000031.6(ALAD):c.*1675C>T rs756771103
NM_000031.6(ALAD):c.*1741G>A rs886063358
NM_000031.6(ALAD):c.*1787A>C rs1588080129
NM_000031.6(ALAD):c.*1804T>C rs1327333635
NM_000031.6(ALAD):c.*1864A>C rs886063357
NM_000031.6(ALAD):c.*1915del rs886063356
NM_000031.6(ALAD):c.*234G>A rs1023159630
NM_000031.6(ALAD):c.*438G>C rs886063362
NM_000031.6(ALAD):c.*459_*463del rs886063361
NM_000031.6(ALAD):c.*676dup rs532401659
NM_000031.6(ALAD):c.*760T>C rs1827430851
NM_000031.6(ALAD):c.*871C>A rs8177822
NM_000031.6(ALAD):c.*920C>T rs1827424865
NM_000031.6(ALAD):c.165-11C>A rs749066913
NM_000031.6(ALAD):c.165-11C>T rs749066913
NM_000031.6(ALAD):c.1A>G (p.Met1Val) rs752500552
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)
NM_000031.6(ALAD):c.446G>A (p.Arg149Gln) rs528493383
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000031.6(ALAD):c.910A>G (p.Met304Val) rs1588081960
NM_000031.6(ALAD):c.931+15G>A rs886063364
NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val) rs1557247532
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) rs387906472
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.-10G>A rs867711777
NM_000097.7(CPOX):c.-7C>G rs1010766291
NM_000097.7(CPOX):c.1230A>G (p.Pro410=) rs1707257247
NM_000097.7(CPOX):c.125G>C (p.Ser42Thr) rs886058951
NM_000097.7(CPOX):c.130G>T (p.Ala44Ser) rs886058950
NM_000097.7(CPOX):c.156C>G (p.Gly52=) rs886058949
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.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.86A>C (p.Gln29Pro) rs886058952
NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.*1039G>A rs185134664
NM_000140.5(FECH):c.*1071C>G rs886053992
NM_000140.5(FECH):c.*1170T>A rs886053991
NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA rs886053988
NM_000140.5(FECH):c.*1173A>T rs868017208
NM_000140.5(FECH):c.*1175G>A rs886053990
NM_000140.5(FECH):c.*1176G>A rs886053989
NM_000140.5(FECH):c.*1287_*1288insTA rs59569925
NM_000140.5(FECH):c.*1287_*1288insTTTA rs59569925
NM_000140.5(FECH):c.*1348T>G rs886053987
NM_000140.5(FECH):c.*136G>C rs886053995
NM_000140.5(FECH):c.*1453T>C rs886053986
NM_000140.5(FECH):c.*2436GTTTT[2] rs886053981
NM_000140.5(FECH):c.*2451_*2452insG rs1555678907
NM_000140.5(FECH):c.*2459_*2461dup rs529946604
NM_000140.5(FECH):c.*2461dup rs529946604
NM_000140.5(FECH):c.*2840C>T rs568628377
NM_000140.5(FECH):c.*3753_*3754insT rs886053972
NM_000140.5(FECH):c.*3976C>T rs886053970
NM_000140.5(FECH):c.*4368G>A rs543603003
NM_000140.5(FECH):c.*4598T>G rs886053967
NM_000140.5(FECH):c.*4793TTA[1] rs137860528
NM_000140.5(FECH):c.*4891dup rs146687823
NM_000140.5(FECH):c.*5139C>T rs151197779
NM_000140.5(FECH):c.*5170T>C rs886053966
NM_000140.5(FECH):c.*5628C>A rs13732
NM_000140.5(FECH):c.*592C>T rs577112809
NM_000140.5(FECH):c.*825T>C rs886053993
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.5(FECH):c.1137+3A>G rs202147607
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.181C>T (p.Gln61Ter) rs2122357230
NM_000140.5(FECH):c.194+11A>G rs786205247
NM_000140.5(FECH):c.229G>A (p.Gly77Arg) rs2051141708
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000140.5(FECH):c.314+6A>C rs786205246
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.40del (p.Ala14fs)
NM_000140.5(FECH):c.464-4A>G rs1265864647
NM_000140.5(FECH):c.47del (p.Gly16fs) rs2051380165
NM_000140.5(FECH):c.553G>A (p.Ala185Thr) rs397514476
NM_000140.5(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000140.5(FECH):c.598+1G>T rs1598996309
NM_000140.5(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.5(FECH):c.901_902del (p.Trp301fs) rs1430926156
NM_000140.5(FECH):c.913-7C>T rs369538477
NM_000190.4(HMBS):c.*153G>A rs550995668
NM_000190.4(HMBS):c.*94T>C rs886047755
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) rs1555206402
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser) rs1565750711
NM_000190.4(HMBS):c.160+5G>C rs1592213590
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) rs2134859037
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn) rs1402435019
NM_000190.4(HMBS):c.210+1G>C rs2134859316
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.211-1G>T rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.232A>T (p.Thr78Ser) rs1565754479
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) rs1946187914
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del)
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) rs143984293
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) rs1057518886
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro)
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter)
NM_000190.4(HMBS):c.584G>A (p.Arg195His) rs1364712093
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.605dup (p.Gln204fs)
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.613-1G>A rs771206317
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) rs774594843
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.654G>A (p.Gly218=) rs1350355238
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) rs1555206128
NM_000190.4(HMBS):c.723C>G (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.815del (p.Lys272fs)
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000190.4(HMBS):c.88-27_88-12del
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.912+1G>C
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) rs2134885779
NM_000374.4(UROD):c.-57dup rs777548921
NM_000374.5(UROD):c.*70G>A rs41269105
NM_000374.5(UROD):c.-1C>T rs886046364
NM_000374.5(UROD):c.101G>A (p.Trp34Ter)
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.21-12C>T rs775210041
NM_000374.5(UROD):c.21-1G>C rs1644814606
NM_000374.5(UROD):c.240T>G (p.Ala80=) rs1644820833
NM_000374.5(UROD):c.383C>A (p.Ala128Asp) rs141792226
NM_000374.5(UROD):c.463G>A (p.Ala155Thr) rs1457521997
NM_000374.5(UROD):c.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.578G>C (p.Arg193Pro) rs143823335
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.583_611del (p.Leu195fs) rs2148982945
NM_000374.5(UROD):c.693G>A (p.Lys231=) rs143180539
NM_000374.5(UROD):c.6_15del (p.Glu2fs) rs397514764
NM_000374.5(UROD):c.70T>G (p.Trp24Gly) rs11541966
NM_000374.5(UROD):c.725del (p.Lys242fs)
NM_000374.5(UROD):c.758dup (p.Ala254fs)
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.904C>T (p.Gln302Ter) rs1569967143
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_001122764.3(PPOX):c.-174A>G rs886045451
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys)
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) rs28936676
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) rs771215757
NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val) rs886045455
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) rs2101902523
NM_001122764.3(PPOX):c.1291+1G>T rs1571418365
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=) rs1661206662
NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr) rs1661220672
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) rs786204784
NM_001122764.3(PPOX):c.338+9A>G rs886045453
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro)
NM_001122764.3(PPOX):c.420del (p.Glu141fs)
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu)
NM_001122764.3(PPOX):c.522C>T (p.Asn174=) rs886045454
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) rs1571357779
NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe) rs1659928956
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) rs2101876868
NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys)
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.69G>T (p.Arg23=) rs886045452
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu)
NM_001122764.3(PPOX):c.869-3_869-2del rs1558033572
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
PPOX, IVS11DS, G-A, -1
Single allele

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