ClinVar Miner

List of variants reported as benign for X-linked disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 518
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HGVS dbSNP gnomAD frequency
NM_000054.7(AVPR2):c.26-6T>G rs56689668 0.99968
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr) rs4779816 0.85041
NM_002351.5(SH2D1A):c.*863T>A rs7876065 0.84013
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn) rs2241493 0.79957
NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=) rs2288242 0.78132
NM_001011658.4(TRAPPC2):c.*1739C>G rs7716 0.70553
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000033.3(ABCD1):c.*1035C>T rs6643782 0.69879
NM_001011658.4(TRAPPC2):c.*830G>C rs1964206 0.65101
NM_001167.4(XIAP):c.*5892T>G rs6648556 0.64022
NM_153252.5(BRWD3):c.*6862T>C rs2063579 0.63956
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_001167.4(XIAP):c.*4610C>T rs9856 0.60235
NM_001167.4(XIAP):c.*5241A>T rs5958343 0.59444
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_144499.3(GNAT1):c.*1427A>G rs34877766 0.55827
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
NM_001252024.2(TRPM1):c.*571G>A rs11070718 0.53803
NM_145200.5(CABP4):c.541+7C>G rs1638564 0.53792
NM_000444.6(PHEX):c.-90A>G rs178710 0.51407
NM_000054.7(AVPR2):c.927A>G (p.Leu309=) rs5201 0.50717
NM_001378477.3(NYX):c.*509G>C rs3021319 0.50557
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=) rs1035705 0.47013
NM_000033.4(ABCD1):c.*877C>T rs11803 0.46252
NM_000033.4(ABCD1):c.*894G>A rs1055847 0.44006
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_144499.3(GNAT1):c.*516T>G rs11919418 0.41929
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_000539.3(RHO):c.*912A>G rs2855558 0.37600
NM_000444.6(PHEX):c.1769-10C>T rs3752433 0.33899
NM_145200.5(CABP4):c.*876G>A rs11601325 0.33447
NM_144499.3(GNAT1):c.*618C>T rs13064381 0.31869
NM_001011658.4(TRAPPC2):c.*1052T>C rs5979952 0.28849
NM_001378477.3(NYX):c.-57+60A>G rs3013121 0.28288
NM_001378477.3(NYX):c.-57+95T>C rs3013122 0.28228
NM_001039891.2(ZNF674):c.*2120A>C rs5952893 0.26563
NM_153252.5(BRWD3):c.*5481A>C rs12690214 0.26102
NM_001004334.4(GPR179):c.909= (p.Val303=) rs9894059 0.24635
NM_001252024.2(TRPM1):c.2373T>C (p.Tyr791=) rs12913672 0.24521
NM_001330574.2(ZNF711):c.-286+5C>T rs41311563 0.22093
NM_001330574.2(ZNF711):c.*632A>G rs6653049 0.22070
NM_024921.4(POF1B):c.*1626G>A rs16980188 0.22046
NM_024921.4(POF1B):c.*1431A>C rs16980189 0.22033
NM_001330574.2(ZNF711):c.*153A>G rs2343388 0.21897
NM_001167.4(XIAP):c.*5506T>A rs201236246 0.21442
NM_000033.4(ABCD1):c.*608G>A rs73640819 0.19859
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) rs3743171 0.19289
NM_001167.4(XIAP):c.*12A>G rs28382740 0.18976
NM_001167.4(XIAP):c.*6251C>T rs28382755 0.18915
NM_001167.4(XIAP):c.*2845C>T rs17330644 0.18875
NM_001167.4(XIAP):c.*2674A>C rs17330637 0.18783
NM_001167.4(XIAP):c.*4188T>C rs28382752 0.18781
NM_001167.4(XIAP):c.*4884C>T rs8371 0.18781
NM_001167.4(XIAP):c.*3383T>C rs17330651 0.18705
NM_001167.4(XIAP):c.*1676T>C rs17334746 0.18591
NM_001167.4(XIAP):c.*3642T>G rs28382747 0.17981
NM_001167.4(XIAP):c.*4015A>G rs28382749 0.17684
NM_001167.4(XIAP):c.*4078C>A rs28382751 0.17448
NM_002351.5(SH2D1A):c.*1321A>G rs6649207 0.16862
NM_001167.4(XIAP):c.*803G>T rs28382742 0.16745
NM_001252024.2(TRPM1):c.*251A>G rs17227989 0.16454
NM_001167.4(XIAP):c.*1393G>A rs28382744 0.16288
NM_001004334.4(GPR179):c.3448A>G (p.Lys1150Glu) rs55727040 0.16088
NM_153252.5(BRWD3):c.*3850G>C rs45627037 0.15831
NM_153252.5(BRWD3):c.*5993G>C rs7065450 0.15763
NM_145200.5(CABP4):c.*1697A>G rs2514262 0.14831
NM_000444.6(PHEX):c.-33C>T rs5951494 0.13118
NM_000539.3(RHO):c.*232A>G rs2410 0.12892
NM_145200.5(CABP4):c.*119T>G rs1790736 0.12627
NM_145200.5(CABP4):c.*1857T>C rs11227798 0.12407
NM_001252024.2(TRPM1):c.2541C>T (p.Asn847=) rs12911350 0.12346
NM_000539.3(RHO):c.*925T>C rs60645924 0.11065
NM_000444.6(PHEX):c.1966-11T>C rs12014792 0.09259
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_024921.4(POF1B):c.*1849G>A rs73513629 0.08686
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000539.3(RHO):c.-51G>A rs2269736 0.08270
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000054.7(AVPR2):c.993C>T (p.Ser331=) rs5202 0.07296
NM_004727.3(SLC24A1):c.*1618A>G rs62014380 0.06922
NM_001167.4(XIAP):c.*80G>C rs12838858 0.06523
NM_004727.3(SLC24A1):c.*732T>G rs62014379 0.06512
NM_002351.5(SH2D1A):c.*212G>A rs5958475 0.06359
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val) rs35571449 0.06350
NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln) rs12898290 0.06327
NM_001252024.2(TRPM1):c.4189G>T (p.Glu1397Ter) rs3784589 0.06326
NM_145200.5(CABP4):c.*2327G>A rs11227799 0.06318
NM_000032.5(ALAS2):c.*56A>C rs6612250 0.06184
NM_145200.5(CABP4):c.800-5C>T rs72934713 0.05627
NM_001004334.4(GPR179):c.7080T>G (p.Thr2360=) rs58740367 0.05624
NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu) rs4399578 0.05465
NM_001252024.2(TRPM1):c.4249G>A (p.Val1417Ile) rs3784588 0.05322
NM_153252.5(BRWD3):c.*2831C>T rs3810676 0.05213
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_001004334.4(GPR179):c.*362G>A rs4794777 0.05121
NM_153252.5(BRWD3):c.*4223C>T rs184070793 0.05012
NM_001004334.4(GPR179):c.1478= (p.His493=) rs4550493 0.04915
NM_153252.5(BRWD3):c.*5461T>G rs41306245 0.04912
NM_001167.4(XIAP):c.*1958G>A rs41309540 0.04864
NM_001167.4(XIAP):c.*6422T>A rs5911725 0.04760
NM_001167.4(XIAP):c.*5069A>T rs5956584 0.04730
NM_153252.5(BRWD3):c.*1372T>A rs41300257 0.04529
NM_001252024.2(TRPM1):c.3752A>C (p.Asn1251Thr) rs17227996 0.04213
NM_171998.4(RAB39B):c.*1347C>T rs17052027 0.04193
NM_001004334.4(GPR179):c.2650C>T (p.Arg884Trp) rs72832277 0.04068
NM_004727.3(SLC24A1):c.*718C>A rs12148277 0.03721
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_171998.4(RAB39B):c.*1813C>A rs17052030 0.03516
NM_001330574.2(ZNF711):c.-449A>G rs375972814 0.03298
NM_000166.6(GJB1):c.*117C>T rs41307256 0.03266
NM_153252.5(BRWD3):c.3602+14T>A rs73502699 0.03187
NM_004727.3(SLC24A1):c.*766G>A rs140766380 0.03114
NM_153252.5(BRWD3):c.*3483G>A rs116559809 0.02942
NM_001252024.2(TRPM1):c.4201C>A (p.Pro1401Thr) rs61734298 0.02860
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_153252.5(BRWD3):c.*1036A>C rs41300175 0.02680
NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser) rs5196 0.02678
NM_171998.4(RAB39B):c.*1580C>G rs115301020 0.02663
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_153252.5(BRWD3):c.*3787T>C rs146779779 0.02546
NM_001252024.2(TRPM1):c.1879G>A (p.Val627Met) rs17815774 0.02393
NM_001252024.2(TRPM1):c.1572+14A>G rs17228080 0.02373
NM_000539.3(RHO):c.*313C>T rs55941599 0.02366
NM_000054.7(AVPR2):c.*257G>A rs73627263 0.02353
NM_002351.5(SH2D1A):c.*866A>G rs767771720 0.02353
NM_000054.7(AVPR2):c.35G>A (p.Gly12Glu) rs2071126 0.02308
NM_000166.6(GJB1):c.*163G>T rs139775308 0.02210
NM_153252.5(BRWD3):c.*6157C>T rs142555243 0.02125
NM_000166.6(GJB1):c.*34C>A rs113014279 0.02074
NM_001004334.4(GPR179):c.5930C>A (p.Pro1977His) rs62073368 0.02067
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_198506.5(LRIT3):c.*962A>G rs10011256 0.01835
NM_144499.3(GNAT1):c.*1397G>T rs74718377 0.01823
NM_001004334.4(GPR179):c.5385C>T (p.Gly1795=) rs72832276 0.01811
NM_145200.5(CABP4):c.*2195G>A rs11822066 0.01710
NM_145200.5(CABP4):c.*1435G>A rs75914794 0.01709
NM_000054.7(AVPR2):c.440C>T (p.Ala147Val) rs5200 0.01635
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251 0.01631
NM_001167.4(XIAP):c.*3611C>T rs28382746 0.01629
NM_001011658.4(TRAPPC2):c.*1599T>C rs146362855 0.01547
NM_001011658.4(TRAPPC2):c.*490C>T rs186451206 0.01542
NM_144499.3(GNAT1):c.117G>A (p.Glu39=) rs34797487 0.01515
NM_001167.4(XIAP):c.*5368C>T rs138392322 0.01491
NM_001378477.3(NYX):c.207G>A (p.Leu69=) rs12013709 0.01487
NM_144499.3(GNAT1):c.*1174G>A rs114828382 0.01485
NM_001167.4(XIAP):c.*5756C>T rs149254603 0.01472
NM_001004334.4(GPR179):c.*613G>C rs59996277 0.01442
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_001011658.4(TRAPPC2):c.*1963A>G rs147081718 0.01377
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_001004334.4(GPR179):c.*523G>A rs143241101 0.01311
NM_001004334.4(GPR179):c.3881G>A (p.Arg1294Gln) rs74742940 0.01287
NM_000444.6(PHEX):c.-108A>G rs149541983 0.01269
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=) rs61733857 0.01240
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) rs72549428 0.01228
NM_001004334.4(GPR179):c.3680A>G (p.Lys1227Arg) rs138451517 0.01226
NM_001004334.4(GPR179):c.1595G>A (p.Arg532His) rs59208852 0.01203
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_000539.3(RHO):c.*1601C>T rs187923166 0.01177
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823 0.01175
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_001004334.4(GPR179):c.3569G>A (p.Arg1190Gln) rs80172972 0.01140
NM_001167.4(XIAP):c.*4658C>T rs28382753 0.01131
NM_000539.3(RHO):c.*488T>C rs78163008 0.01127
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_001004334.4(GPR179):c.921T>A (p.Ser307Arg) rs137934209 0.01106
NM_004727.3(SLC24A1):c.*1199T>C rs114414983 0.01090
NM_000539.3(RHO):c.*33C>T rs113310993 0.01076
NM_000054.7(AVPR2):c.1113G>A (p.Ser371=) rs5203 0.01072
NM_001004334.4(GPR179):c.2924C>A (p.Ala975Asp) rs111520301 0.01045
NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr) rs78470373 0.01044
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000054.7(AVPR2):c.125C>T (p.Ala42Val) rs5198 0.01023
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00992
NM_001167.4(XIAP):c.*6357G>A rs41312771 0.00988
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) rs151234075 0.00986
NM_014271.4(IL1RAPL1):c.-39G>A rs143054072 0.00962
NM_001252024.2(TRPM1):c.1644C>T (p.Tyr548=) rs34647453 0.00956
NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=) rs35366838 0.00946
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_000283.4(PDE6B):c.*414C>T rs111404897 0.00925
NM_145200.5(CABP4):c.747C>T (p.Asp249=) rs34573687 0.00924
NM_002351.5(SH2D1A):c.*1100C>A rs141513491 0.00923
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_001004334.4(GPR179):c.880C>T (p.Leu294=) rs141320532 0.00905
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met) rs61734295 0.00844
NM_001004334.4(GPR179):c.2988G>A (p.Glu996=) rs192591837 0.00838
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977 0.00815
NM_001004334.4(GPR179):c.3979G>A (p.Asp1327Asn) rs112195635 0.00812
NM_001252024.2(TRPM1):c.1261C>A (p.Pro421Thr) rs141540242 0.00803
NM_171998.4(RAB39B):c.*1945A>T rs145867198 0.00760
NM_171998.4(RAB39B):c.*282G>T rs147213132 0.00758
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_145200.5(CABP4):c.*1859C>T rs7936733 0.00732
NM_198506.5(LRIT3):c.*232C>G rs116151046 0.00720
NM_153252.5(BRWD3):c.*1592G>C rs180892443 0.00718
NM_153252.5(BRWD3):c.*6902G>A rs188498975 0.00718
NM_153252.5(BRWD3):c.*2323G>A rs191690327 0.00713
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly) rs34169326 0.00706
NM_001011658.4(TRAPPC2):c.*1443G>A rs148298471 0.00704
NM_001011658.4(TRAPPC2):c.*1128C>T rs181174972 0.00702
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570 0.00691
NM_001252024.2(TRPM1):c.3980G>A (p.Arg1327His) rs13380059 0.00682
NM_171998.4(RAB39B):c.*1006A>G rs138077054 0.00682
NM_001252024.2(TRPM1):c.*723T>C rs143353770 0.00654
NM_002351.4(SH2D1A):c.-318G>C rs146024883 0.00649
NM_000444.6(PHEX):c.*218A>C rs141594056 0.00645
NM_001004334.4(GPR179):c.645G>A (p.Pro215=) rs75688084 0.00639
NM_145200.5(CABP4):c.*963C>T rs76060170 0.00637
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_004727.3(SLC24A1):c.*778C>T rs150126578 0.00629
NM_000032.5(ALAS2):c.824-15C>T rs727467 0.00627
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00612
NM_001004334.4(GPR179):c.508G>C (p.Gly170Arg) rs77937007 0.00605
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_001004334.4(GPR179):c.4141T>C (p.Cys1381Arg) rs4398144 0.00592
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_001252024.2(TRPM1):c.4007C>T (p.Thr1336Met) rs111421899 0.00551
NM_001252024.2(TRPM1):c.1764+9C>G rs147073624 0.00537
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721 0.00531
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_001252024.2(TRPM1):c.3938C>T (p.Thr1313Met) rs114875010 0.00511
NM_145200.5(CABP4):c.*2679A>G rs77828276 0.00503
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001004334.4(GPR179):c.628G>A (p.Gly210Ser) rs148060036 0.00463
NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=) rs79581534 0.00452
NM_000054.7(AVPR2):c.12G>A (p.Ala4=) rs61748993 0.00449
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) rs141813304 0.00436
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_153252.5(BRWD3):c.*1992G>A rs193085939 0.00420
NM_001167.4(XIAP):c.*4889T>C rs185939201 0.00412
NM_145200.5(CABP4):c.53G>A (p.Arg18His) rs140245752 0.00399
NM_000032.5(ALAS2):c.*124C>T rs145843014 0.00387
NM_000283.4(PDE6B):c.1108-9C>T rs200970775 0.00373
NM_001330574.2(ZNF711):c.-297A>T rs772828408 0.00370
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592 0.00362
NM_145200.5(CABP4):c.*120T>A rs372107215 0.00360
NM_000539.3(RHO):c.*1278G>T rs113312341 0.00359
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562 0.00357
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437 0.00356
NM_001167.4(XIAP):c.*6549C>T rs193060081 0.00342
NM_001011658.4(TRAPPC2):c.*393G>C rs748998980 0.00336
NM_153252.5(BRWD3):c.*5133G>T rs41307391 0.00335
NM_171998.4(RAB39B):c.*1040C>T rs185958813 0.00335
NM_144499.3(GNAT1):c.*410A>G rs557823715 0.00322
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_001167.4(XIAP):c.*482G>A rs144625027 0.00303
NM_001330574.2(ZNF711):c.*1411G>A rs779890560 0.00296
NM_153252.5(BRWD3):c.*4272C>T rs190439155 0.00283
NM_001011658.4(TRAPPC2):c.*394T>C rs780042144 0.00274
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_000444.6(PHEX):c.*58C>T rs183223600 0.00262
NM_001252024.2(TRPM1):c.1342G>A (p.Gly448Arg) rs73372436 0.00257
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_001011658.4(TRAPPC2):c.*709C>G rs181594125 0.00235
NM_198506.5(LRIT3):c.158C>T (p.Thr53Met) rs181200721 0.00233
NM_002351.4(SH2D1A):c.-247G>A rs190166840 0.00231
NM_001032382.2(PQBP1):c.-18-69C>T rs150603792 0.00229
NM_198506.5(LRIT3):c.*389G>A rs139529995 0.00228
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747 0.00223
NM_001330574.2(ZNF711):c.*122G>T rs755444976 0.00218
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00215
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_001011658.4(TRAPPC2):c.*641G>A rs752947538 0.00203
NM_001167.4(XIAP):c.*5796C>T rs745822519 0.00191
NM_001167.4(XIAP):c.*3040G>A rs187400208 0.00188
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_144499.3(GNAT1):c.*1187G>A rs192468377 0.00180
NM_001330574.2(ZNF711):c.*1260G>A rs73234669 0.00178
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_000539.3(RHO):c.*205C>T rs202215179 0.00170
NM_144499.3(GNAT1):c.939G>A (p.Lys313=) rs201551360 0.00163
NM_153252.5(BRWD3):c.*3447G>A rs767696195 0.00163
NM_153252.5(BRWD3):c.*4809T>G rs41311569 0.00162
NM_000539.3(RHO):c.*467A>G rs148165044 0.00161
NM_153252.5(BRWD3):c.2044+13A>G rs372899207 0.00159
NM_144499.3(GNAT1):c.411G>A (p.Glu137=) rs147238978 0.00140
NM_001167.4(XIAP):c.*3572A>G rs185763794 0.00137
NM_153252.5(BRWD3):c.*6640T>A rs192201825 0.00137
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_001167.4(XIAP):c.*5505G>A rs28745607 0.00134
NM_002578.5(PAK3):c.*463T>C rs761662392 0.00134
NM_153252.5(BRWD3):c.*5333G>T rs180875963 0.00134
NM_000054.7(AVPR2):c.105G>A (p.Leu35=) rs5197 0.00133
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509 0.00132
NM_000054.7(AVPR2):c.*204C>T rs184401408 0.00131
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_000054.7(AVPR2):c.*320G>A rs782034775 0.00126
NM_001167.4(XIAP):c.*4092G>A rs773227715 0.00125
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) rs145361311 0.00123
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609 0.00111
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_004727.3(SLC24A1):c.-182T>C rs190488986 0.00110
NM_000054.7(AVPR2):c.174G>A (p.Val58=) rs201810684 0.00108
NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro) rs148601715 0.00108
NM_000132.4(F8):c.*1001C>T rs183289212 0.00107
NM_000054.7(AVPR2):c.1017G>A (p.Leu339=) rs149557877 0.00106
NM_001167.4(XIAP):c.*2622G>A rs778277646 0.00105
NM_001011658.4(TRAPPC2):c.*2035C>T rs41297317 0.00102
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) rs138675194 0.00097
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_153252.5(BRWD3):c.*5264G>T rs760065405 0.00087
NM_000054.7(AVPR2):c.643G>A (p.Val215Met) rs112109182 0.00082
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_001004334.4(GPR179):c.1477C>T (p.His493Tyr) rs114716738 0.00081
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_144499.3(GNAT1):c.*2329A>G rs187096133 0.00079
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236 0.00079
NM_000444.6(PHEX):c.-126C>G rs185830047 0.00078
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388 0.00077
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=) rs142802752 0.00073
NM_014271.4(IL1RAPL1):c.-20C>T rs200878713 0.00072
NM_000283.4(PDE6B):c.852+12G>A rs201676629 0.00070
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_001167.4(XIAP):c.*2729C>G rs745491539 0.00068
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_000033.4(ABCD1):c.-202C>G rs781978041 0.00067
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821 0.00066
NM_000033.4(ABCD1):c.*985C>G rs782309410 0.00063
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000054.7(AVPR2):c.117G>A (p.Ala39=) rs374487946 0.00061
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) rs148190219 0.00061
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179 0.00061
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu) rs138682290 0.00056
NM_001330574.2(ZNF711):c.*272G>A rs187954106 0.00055
NM_000132.4(F8):c.*1214G>A rs34700571 0.00054
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_000539.3(RHO):c.*1200T>C rs538744995 0.00051
NM_171998.4(RAB39B):c.*1079A>C rs147409916 0.00051
NM_001167.4(XIAP):c.*4024C>T rs28382750 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_153252.5(BRWD3):c.*2723A>G rs756899423 0.00049
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_002764.4(PRPS1):c.*725T>C rs183744100 0.00047
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_198506.5(LRIT3):c.1317G>A (p.Lys439=) rs189069580 0.00044
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_002764.4(PRPS1):c.*158C>T rs777440100 0.00042
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_001004334.4(GPR179):c.2022C>T (p.Asp674=) rs79623844 0.00041
NM_000166.6(GJB1):c.*309G>A rs181881705 0.00040
NM_144499.3(GNAT1):c.876C>T (p.Tyr292=) rs142612552 0.00039
NM_001167.4(XIAP):c.*4380G>A rs181285458 0.00038
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) rs138267399 0.00036
NM_001011658.4(TRAPPC2):c.*546G>A rs777240291 0.00035
NM_144499.3(GNAT1):c.*1990G>A rs184223436 0.00035
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852 0.00034
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001167.4(XIAP):c.309G>A (p.Thr103=) rs140230812 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_000283.4(PDE6B):c.2352+3G>A rs111504036 0.00033
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_000283.4(PDE6B):c.966C>T (p.His322=) rs143711050 0.00032
NM_002351.5(SH2D1A):c.*1689C>A rs186082107 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_001167.4(XIAP):c.*2682T>G rs191855689 0.00030
NM_000539.3(RHO):c.519C>T (p.Ala173=) rs149722668 0.00029
NM_001167.4(XIAP):c.*5331G>A rs777622382 0.00029
NM_001252024.2(TRPM1):c.729C>T (p.Gly243=) rs188427342 0.00029
NM_144499.3(GNAT1):c.241G>A (p.Val81Ile) rs201849628 0.00026
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921 0.00026
NM_001004334.4(GPR179):c.6798T>G (p.Phe2266Leu) rs141146547 0.00025
NM_001167.4(XIAP):c.*3707T>G rs766102484 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_002578.5(PAK3):c.-63A>G rs192192146 0.00023
NM_000054.7(AVPR2):c.742C>T (p.Arg248Cys) rs782516523 0.00022
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) rs752846577 0.00019
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_000054.7(AVPR2):c.317G>A (p.Arg106His) rs201053959 0.00017
NM_000054.7(AVPR2):c.126G>A (p.Ala42=) rs2234695 0.00016
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys) rs143908642 0.00016
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=) rs143866050 0.00016
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_001167.4(XIAP):c.*5140C>T rs762047770 0.00014
NM_000054.7(AVPR2):c.*326A>C rs781796044 0.00013
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn) rs138423108 0.00013
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810 0.00013
NM_004727.3(SLC24A1):c.1374C>T (p.His458=) rs370043190 0.00013
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00012
NM_001378477.3(NYX):c.1238C>G (p.Ser413Cys) rs776029387 0.00012
NM_000033.4(ABCD1):c.*473C>T rs782343473 0.00011
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro) rs199521106 0.00011
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys) rs201006405 0.00011
NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln) rs149936603 0.00011
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) rs140203774 0.00011
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.744G>A (p.Lys248=) rs141185480 0.00010
NM_153252.5(BRWD3):c.*575G>T rs776687351 0.00010
NM_000054.7(AVPR2):c.311G>A (p.Arg104His) rs373990379 0.00009
NM_000054.7(AVPR2):c.769G>A (p.Gly257Ser) rs143480277 0.00009
NM_000283.4(PDE6B):c.2193+5G>A rs576895229 0.00009
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000307.5(POU3F4):c.*22C>G rs201213510 0.00009
NM_001011658.4(TRAPPC2):c.*302A>G rs771210112 0.00009
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000444.6(PHEX):c.*361T>C rs182654518 0.00008
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528 0.00008
NM_014271.4(IL1RAPL1):c.550-4A>G rs368301683 0.00008
NM_000283.3(PDE6B):c.*764G>A rs575639886 0.00006
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=) rs750323428 0.00006
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr) rs149880099 0.00006
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu) rs189172362 0.00006
NM_000283.4(PDE6B):c.699G>A (p.Thr233=) rs148264146 0.00006
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_004727.3(SLC24A1):c.2884-15G>A rs371022531 0.00006
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=) rs777536426 0.00006
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306 0.00006
NM_153252.5(BRWD3):c.*5741G>T rs139358289 0.00006
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287 0.00005
NM_000054.7(AVPR2):c.546C>T (p.Asn182=) rs13306213 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) rs139730174 0.00005
NM_001167.4(XIAP):c.*5295A>T rs755335432 0.00005
NM_001167.4(XIAP):c.*5870G>T rs187282700 0.00005
NM_002578.5(PAK3):c.-15T>C rs758607736 0.00005
NM_002578.5(PAK3):c.9C>T (p.Asp3=) rs745645606 0.00005
NM_014271.4(IL1RAPL1):c.-25+14A>C rs146138116 0.00005
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) rs200079698 0.00004
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830 0.00003
NM_000033.4(ABCD1):c.768C>T (p.Asn256=) rs782236148 0.00003
NM_000132.4(F8):c.*1416G>T rs186338743 0.00003
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_001032382.2(PQBP1):c.*3C>T rs781944808 0.00003
NM_002351.5(SH2D1A):c.*257A>T rs556331824 0.00003
NM_144499.3(GNAT1):c.294C>T (p.Asp98=) rs374784713 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032 0.00002
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn) rs539768252 0.00002
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met) rs369980987 0.00002
NM_000444.6(PHEX):c.*305G>A rs189715720 0.00002
NM_001167.4(XIAP):c.*5010A>G rs770776017 0.00002
NM_002764.4(PRPS1):c.*178G>A rs576933222 0.00002
NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=) rs765601278 0.00002
NM_153252.5(BRWD3):c.957C>A (p.Val319=) rs746783547 0.00002
NM_000054.7(AVPR2):c.416G>A (p.Arg139His) rs782096959 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000283.4(PDE6B):c.*21C>T rs371005251 0.00001
NM_000283.4(PDE6B):c.1590C>T (p.Val530=) rs202244041 0.00001
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp) rs768939011 0.00001
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr) rs779474710 0.00001
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001
NM_001011658.4(TRAPPC2):c.*1634G>T rs187464655 0.00001
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) rs143156492 0.00001
NM_001167.4(XIAP):c.*2944C>A rs776649984 0.00001
NM_001167.4(XIAP):c.*6566G>A rs770051891 0.00001
NM_001330574.2(ZNF711):c.*47A>G rs755503652 0.00001
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=) rs150030676 0.00001
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) rs201215945 0.00001
NM_144499.3(GNAT1):c.*183C>G rs556104512 0.00001
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000283.4(PDE6B):c.2353-13C>T rs369466418
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys) rs537263212
NM_000444.6(PHEX):c.*388A>G rs759086924
NM_000539.3(RHO):c.*1099G>A rs3733148
NM_000539.3(RHO):c.*43C>A rs2071093
NM_000539.3(RHO):c.*959A>G rs368910470
NM_001004334.4(GPR179):c.3699= (p.Leu1233=) rs35803744
NM_001011658.4(TRAPPC2):c.*1436C>G rs192328990
NM_001167.4(XIAP):c.*1298G>C rs41312612
NM_001167.4(XIAP):c.*4149A>G rs770722290
NM_001167.4(XIAP):c.*579G>A rs758981602
NM_001252024.2(TRPM1):c.*549T>C rs112061822
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr) rs138944426
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys) rs117855013
NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly) rs3784587
NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=) rs16956430
NM_001330574.2(ZNF711):c.-473GGC[10] rs758475553
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) rs200444579
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002578.5(PAK3):c.*515del
NM_002578.5(PAK3):c.-492G>A rs751584564
NM_014271.4(IL1RAPL1):c.-302del rs779869307
NM_017875.4(SLC25A38):c.*642del rs34288981
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_144499.3(GNAT1):c.-2C>G rs151191490
NM_145200.5(CABP4):c.192C>T (p.Pro64=) rs1790765
NM_145200.5(CABP4):c.541+8A>C rs1638565
NM_153252.5(BRWD3):c.*265AC[4] rs35220611
NM_153252.5(BRWD3):c.*6331C>G rs11266586
NM_153252.5(BRWD3):c.-229C>T rs766658667
NM_153252.5(BRWD3):c.-239TC[6] rs545281823
NM_153252.5(BRWD3):c.-283CT[8] rs199953219
NM_153252.5(BRWD3):c.3602+15A>C rs374172860
NM_171998.4(RAB39B):c.*1656= rs3105275

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