ClinVar Miner

List of variants studied for Moyamoya syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 516
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HGVS dbSNP
NM_000518.5(HBB):c.*53C>A rs886048393
NM_000518.5(HBB):c.*56A>T rs537944366
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001142279.2(RNASEH2B):c.741+7032G>T rs751735556
NM_001142279.2(RNASEH2B):c.741+7128A>G rs886050292
NM_001142279.2(RNASEH2B):c.741+7215A>G rs147825612
NM_001142279.2(RNASEH2B):c.741+7218T>C rs886050293
NM_001320141.2(RPL6):c.-326C>G rs377496292
NM_002524.4(NRAS):c.-132C>T rs886045109
NM_002524.4(NRAS):c.-179G>C rs886045110
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.4(NRAS):c.-209A>G rs886045111
NM_002524.4(NRAS):c.-242G>C rs886045112
NM_002524.4(NRAS):c.-245C>T rs886045113
NM_002524.5(NRAS):c.*1062_*1063del rs775070295
NM_002524.5(NRAS):c.*111A>G rs188272768
NM_002524.5(NRAS):c.*1382G>T rs886045105
NM_002524.5(NRAS):c.*1643G>C rs571329214
NM_002524.5(NRAS):c.*1656C>T rs886045104
NM_002524.5(NRAS):c.*2178G>A rs886045103
NM_002524.5(NRAS):c.*2327C>T rs533027827
NM_002524.5(NRAS):c.*2464A>G rs140878667
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2513T>A rs150969241
NM_002524.5(NRAS):c.*2546C>T rs778203603
NM_002524.5(NRAS):c.*2630G>A rs886045102
NM_002524.5(NRAS):c.*2662G>A rs148827219
NM_002524.5(NRAS):c.*2667T>C rs145382662
NM_002524.5(NRAS):c.*2677A>T rs886045101
NM_002524.5(NRAS):c.*2714G>T rs886045100
NM_002524.5(NRAS):c.*2784T>A rs374889066
NM_002524.5(NRAS):c.*2805T>C rs776606789
NM_002524.5(NRAS):c.*2844T>A rs530053161
NM_002524.5(NRAS):c.*2860G>A rs886045099
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*3062C>T rs886045098
NM_002524.5(NRAS):c.*3219C>G rs72994441
NM_002524.5(NRAS):c.*3366G>T rs72994440
NM_002524.5(NRAS):c.*3384C>T rs140049110
NM_002524.5(NRAS):c.*3392T>C rs886045097
NM_002524.5(NRAS):c.*3404T>C rs185234485
NM_002524.5(NRAS):c.*344A>G rs746680042
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002524.5(NRAS):c.*3499C>T rs147926293
NM_002524.5(NRAS):c.*416A>C rs9724643
NM_002524.5(NRAS):c.*536C>T rs886045108
NM_002524.5(NRAS):c.*583T>G rs555171083
NM_002524.5(NRAS):c.*740G>A rs372008962
NM_002524.5(NRAS):c.*774A>G rs886045107
NM_002524.5(NRAS):c.*872C>T rs14804
NM_002524.5(NRAS):c.*935dup rs886045106
NM_002524.5(NRAS):c.-106G>T rs755583487
NM_002524.5(NRAS):c.-50A>G rs61758211
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002755.3(MAP2K1):c.-216_-215dupCG rs141005341
NM_002755.3(MAP2K1):c.-220C>T rs886051365
NM_002755.3(MAP2K1):c.-2A>G rs77796976
NM_002755.3(MAP2K1):c.-31dupC rs730880340
NM_002755.3(MAP2K1):c.-405T>G rs886051363
NM_002755.3(MAP2K1):c.-408G>T rs536414539
NM_002755.3(MAP2K1):c.-448C>T rs73469977
NM_002755.3(MAP2K1):c.-456C>G rs886051362
NM_002755.3(MAP2K1):c.-461C>T rs886051361
NM_002755.3(MAP2K1):c.-85G>C rs112542693
NM_002755.3(MAP2K1):c.1023-8C>T rs41306345
NM_002755.3(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.3(MAP2K1):c.1068+9A>G rs368800650
NM_002755.3(MAP2K1):c.1069-12C>A rs781412352
NM_002755.3(MAP2K1):c.1130C>T (p.Ser377Phe) rs371140798
NM_002755.3(MAP2K1):c.1137C>T (p.Ile379=) rs150841154
NM_002755.3(MAP2K1):c.503A>G (p.Lys168Arg) rs886051366
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.3(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.-273G>A rs58805176
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002880.3(RAF1):c.*113T>G rs886057914
NM_002880.3(RAF1):c.*160C>T rs5746246
NM_002880.3(RAF1):c.*162T>C rs886057913
NM_002880.3(RAF1):c.*190G>A rs528863135
NM_002880.3(RAF1):c.*266C>T rs1051208
NM_002880.3(RAF1):c.*348T>C rs5746247
NM_002880.3(RAF1):c.*495C>T rs12808
NM_002880.3(RAF1):c.*556G>A rs187286358
NM_002880.3(RAF1):c.*606A>G rs556460176
NM_002880.3(RAF1):c.*627C>T rs879160471
NM_002880.3(RAF1):c.*640T>C rs759464247
NM_002880.3(RAF1):c.*745_*748delAACA rs371820097
NM_002880.3(RAF1):c.*745_*748dupAACA rs371820097
NM_002880.3(RAF1):c.*83C>T rs2229757
NM_002880.3(RAF1):c.-110G>A rs886057917
NM_002880.3(RAF1):c.-139T>G rs886057918
NM_002880.3(RAF1):c.-146C>G rs886057919
NM_002880.3(RAF1):c.-181T>C rs886057920
NM_002880.3(RAF1):c.-204G>C rs547543588
NM_002880.3(RAF1):c.-267G>A rs116247741
NM_002880.3(RAF1):c.-27+7G>A rs886057916
NM_002880.3(RAF1):c.-281C>G rs61761285
NM_002880.3(RAF1):c.-339_-338AG[1] rs527774250
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.125C>T (p.Ala42Val) rs11549992
NM_002880.3(RAF1):c.1669-13T>C rs147475396
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.3(RAF1):c.321-14T>A rs3730270
NM_002880.3(RAF1):c.321-21dup rs202103447
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.909A>C (p.Thr303=) rs5746219
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_004333.4(BRAF):c.2128-16_2128-15delCT rs886062015
NM_004333.5(BRAF):c.2128-28dup rs60814637
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.*387G>A rs114105685
NM_004333.6(BRAF):c.*3C>T rs746680490
NM_004333.6(BRAF):c.*7T>C rs727502903
NM_004333.6(BRAF):c.-19C>T rs71645935
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404
NM_004333.6(BRAF):c.1694+14G>A rs184144181
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.2128-15dup rs373442098
NM_004333.6(BRAF):c.2128-27_2128-16delinsTCT rs886062016
NM_004333.6(BRAF):c.2128-4del rs886062014
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004333.6(BRAF):c.981-14C>A rs200002171
NM_004985.5(KRAS):c.*1062G>A rs61763591
NM_004985.5(KRAS):c.*1083A>G rs7960917
NM_004985.5(KRAS):c.*1205C>T rs574966178
NM_004985.5(KRAS):c.*1418_*1420del rs200038818
NM_004985.5(KRAS):c.*1501G>A rs886049194
NM_004985.5(KRAS):c.*1540T>C rs61764366
NM_004985.5(KRAS):c.*1587T>C rs7973450
NM_004985.5(KRAS):c.*1627dup rs71065923
NM_004985.5(KRAS):c.*1631A>G rs763217196
NM_004985.5(KRAS):c.*1637_*1638del rs535478558
NM_004985.5(KRAS):c.*1638A>G rs4597149
NM_004985.5(KRAS):c.*1655C>T rs7973623
NM_004985.5(KRAS):c.*1656A>G rs886049193
NM_004985.5(KRAS):c.*1705C>G rs539213224
NM_004985.5(KRAS):c.*1710G>A rs531344668
NM_004985.5(KRAS):c.*1765T>C rs115968671
NM_004985.5(KRAS):c.*176C>T rs886049197
NM_004985.5(KRAS):c.*1772A>G rs886049192
NM_004985.5(KRAS):c.*177T>G rs712
NM_004985.5(KRAS):c.*1846del rs886049191
NM_004985.5(KRAS):c.*1891T>C rs886049190
NM_004985.5(KRAS):c.*193C>T rs150334904
NM_004985.5(KRAS):c.*2184A>G rs61764368
NM_004985.5(KRAS):c.*2239A>G rs886049189
NM_004985.5(KRAS):c.*2270_*2271insC rs886049188
NM_004985.5(KRAS):c.*2279dup rs56128001
NM_004985.5(KRAS):c.*2325G>A rs886049187
NM_004985.5(KRAS):c.*2371C>T rs61764369
NM_004985.5(KRAS):c.*2456G>A rs886049186
NM_004985.5(KRAS):c.*2484G>A rs779071703
NM_004985.5(KRAS):c.*2505T>G rs61764370
NM_004985.5(KRAS):c.*2694C>T rs886049185
NM_004985.5(KRAS):c.*2888A>G rs13096
NM_004985.5(KRAS):c.*2971_*2974del rs886049184
NM_004985.5(KRAS):c.*3148C>T rs886049183
NM_004985.5(KRAS):c.*3152G>A rs61764371
NM_004985.5(KRAS):c.*3202T>C rs886049182
NM_004985.5(KRAS):c.*3264del rs34176876
NM_004985.5(KRAS):c.*3377C>T rs1137188
NM_004985.5(KRAS):c.*3401T>A rs1137189
NM_004985.5(KRAS):c.*3454T>C rs749403585
NM_004985.5(KRAS):c.*3499C>T rs886049181
NM_004985.5(KRAS):c.*3502T>A rs61764372
NM_004985.5(KRAS):c.*3551C>G rs188922523
NM_004985.5(KRAS):c.*3645A>G rs529959450
NM_004985.5(KRAS):c.*3682_*3683dup rs142323886
NM_004985.5(KRAS):c.*3683dup rs142323886
NM_004985.5(KRAS):c.*370C>G rs886049196
NM_004985.5(KRAS):c.*3754_*3757del rs886049180
NM_004985.5(KRAS):c.*3760A>C rs1137196
NM_004985.5(KRAS):c.*3786A>G rs8720
NM_004985.5(KRAS):c.*3901A>C rs12587
NM_004985.5(KRAS):c.*3915A>G rs886049179
NM_004985.5(KRAS):c.*404T>C rs140080026
NM_004985.5(KRAS):c.*4065_*4066del rs34719539
NM_004985.5(KRAS):c.*4066del rs34719539
NM_004985.5(KRAS):c.*4074G>A rs886049177
NM_004985.5(KRAS):c.*4079T>A rs12245
NM_004985.5(KRAS):c.*4305_*4306dup rs61764373
NM_004985.5(KRAS):c.*4311A>G rs61764374
NM_004985.5(KRAS):c.*4428G>C rs545014897
NM_004985.5(KRAS):c.*4483G>A rs577486152
NM_004985.5(KRAS):c.*4498T>C rs768891600
NM_004985.5(KRAS):c.*4522G>A rs886049176
NM_004985.5(KRAS):c.*512T>C rs9266
NM_004985.5(KRAS):c.*538del rs756307694
NM_004985.5(KRAS):c.*550C>T rs566222739
NM_004985.5(KRAS):c.*59A>G rs886049198
NM_004985.5(KRAS):c.*765A>G rs886049195
NM_004985.5(KRAS):c.*824T>C rs61763589
NM_004985.5(KRAS):c.*865T>C rs559143985
NM_004985.5(KRAS):c.*973G>T rs61763590
NM_004985.5(KRAS):c.-128C>G rs886049199
NM_004985.5(KRAS):c.-160A>G rs727503111
NM_004985.5(KRAS):c.-176_-174CGG[4] rs886049200
NM_004985.5(KRAS):c.-180G>A rs886049201
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665
NM_004985.5(KRAS):c.389C>T (p.Ala130Val) rs730880473
NM_004985.5(KRAS):c.451-9G>A rs12313763
NM_004985.5(KRAS):c.462T>C (p.Asp154=) rs779184057
NM_004985.5(KRAS):c.519T>C (p.Asp173=) rs1137282
NM_005633.3(SOS1):c.*1094_*1097delTTTG rs886056016
NM_005633.3(SOS1):c.*1224A>G rs886056015
NM_005633.3(SOS1):c.*1303C>A rs115153488
NM_005633.3(SOS1):c.*1309A>G rs145273962
NM_005633.3(SOS1):c.*1333_*1336dupAAGT rs35969619
NM_005633.3(SOS1):c.*1385A>G rs868000333
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1589T>G rs886056014
NM_005633.3(SOS1):c.*1606delT rs34248802
NM_005633.3(SOS1):c.*1678C>A rs886056013
NM_005633.3(SOS1):c.*1684G>C rs886056012
NM_005633.3(SOS1):c.*1694delT rs767903412
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*1844A>G rs10166395
NM_005633.3(SOS1):c.*2048_*2050dupAAC rs761591990
NM_005633.3(SOS1):c.*2063_*2066dupACAG rs886056011
NM_005633.3(SOS1):c.*2208dupC rs886056010
NM_005633.3(SOS1):c.*2218T>A rs886056009
NM_005633.3(SOS1):c.*223C>T rs886056022
NM_005633.3(SOS1):c.*2244_*2245dupTA rs3832123
NM_005633.3(SOS1):c.*2439delA rs377250198
NM_005633.3(SOS1):c.*2497G>A rs886056008
NM_005633.3(SOS1):c.*2503_*2506dupAAAT rs886056007
NM_005633.3(SOS1):c.*2567T>A rs6704656
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*298C>G rs886056021
NM_005633.3(SOS1):c.*3189_*3192delTGTT rs572584074
NM_005633.3(SOS1):c.*328A>G rs1059310
NM_005633.3(SOS1):c.*3416_*3417delTC rs200892895
NM_005633.3(SOS1):c.*3451A>T rs78411167
NM_005633.3(SOS1):c.*3463A>G rs886056006
NM_005633.3(SOS1):c.*3539T>C rs1037495
NM_005633.3(SOS1):c.*3566_*3568delGTT rs886056005
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*3724T>C rs11124658
NM_005633.3(SOS1):c.*3725T>C rs72799430
NM_005633.3(SOS1):c.*3727G>C rs886056004
NM_005633.3(SOS1):c.*3918T>C rs1043793
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*4023T>C rs1043800
NM_005633.3(SOS1):c.*4110C>A rs886056003
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.*4265A>G rs377303107
NM_005633.3(SOS1):c.*4C>T rs188849286
NM_005633.3(SOS1):c.*534C>T rs773935049
NM_005633.3(SOS1):c.*544C>T rs886056020
NM_005633.3(SOS1):c.*642T>C rs886056019
NM_005633.3(SOS1):c.*696G>A rs886056018
NM_005633.3(SOS1):c.*758A>T rs182650589
NM_005633.3(SOS1):c.*766delA rs533720751
NM_005633.3(SOS1):c.*805C>A rs1059313
NM_005633.3(SOS1):c.*855G>A rs886056017
NM_005633.3(SOS1):c.*909G>A rs147219108
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.1659G>A (p.Met553Ile) rs886056025
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005633.3(SOS1):c.2121T>C (p.Asp707=) rs571408451
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2789T>C (p.Phe930Ser) rs886056024
NM_005633.3(SOS1):c.3347-3C>T rs779326746
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.3624T>C (p.Pro1208=) rs763107563
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3793T>G (p.Ser1265Ala) rs886056023
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.587C>T (p.Ser196Leu) rs199898869
NM_005633.3(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.3(SOS1):c.865-4T>C rs750788947
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.929G>A (p.Arg310His) rs143481916
NM_006031.6(PCNT):c.362_365CAGT[1] (p.Ser123fs) rs1569162602
NM_006031.6(PCNT):c.6410dup (p.Val2138fs) rs1173590566
NM_006031.6(PCNT):c.8814_8815GA[2] (p.Asp2940fs) rs1214290914
NM_006031.6(PCNT):c.9195_9196insGA (p.Lys3066fs) rs1569308924
NM_006049.4(SNAPC5):c.22-143C>T rs886051367
NM_006049.4(SNAPC5):c.22-206G>T rs14303
NM_006049.4(SNAPC5):c.22-323C>A rs56366941
NM_006049.4(SNAPC5):c.22-47_22-46del rs745540522
NM_006049.4(SNAPC5):c.22-512C>A rs886051368
NM_006049.4(SNAPC5):c.22-513C>A rs886051369
NM_006049.4(SNAPC5):c.22-555C>T rs8684
NM_006049.4(SNAPC5):c.22-678A>G rs770655370
NM_006049.4(SNAPC5):c.22-788T>C rs138560168
NM_006049.4(SNAPC5):c.22-795A>G rs548081932
NM_006049.4(SNAPC5):c.22-806del rs886051370
NM_006049.4(SNAPC5):c.22-815dup rs886051370
NM_006397.2(RNASEH2A):c.*120C>T rs73925216
NM_006397.2(RNASEH2A):c.*16G>T rs199696470
NM_006397.2(RNASEH2A):c.*50T>C rs199822158
NM_006397.2(RNASEH2A):c.*68C>T rs564029348
NM_006397.2(RNASEH2A):c.-16T>C rs1046220
NM_006397.2(RNASEH2A):c.-25A>G rs886054235
NM_006397.2(RNASEH2A):c.-49C>T rs375281767
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.285G>A (p.Val95=) rs374650162
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.550-11T>C rs7247253
NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) rs370225385
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.2(RNASEH2A):c.637+13G>A rs73503453
NM_006397.2(RNASEH2A):c.637+8G>A rs757139110
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304
NM_006397.2(RNASEH2A):c.762-13C>G rs781591228
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862
NM_015474.3(SAMHD1):c.-10A>G rs199721283
NM_015474.3(SAMHD1):c.-110T>C rs28372906
NM_015474.3(SAMHD1):c.-166G>T rs546207604
NM_015474.3(SAMHD1):c.-31T>C rs142162198
NM_015474.3(SAMHD1):c.-39C>A rs368233437
NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) rs144353824
NM_015474.3(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.3(SAMHD1):c.697-11A>G rs200458478
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015474.3(SAMHD1):c.840C>T (p.Val280=) rs17853622
NM_024570.3(RNASEH2B):c.-107G>A rs886050289
NM_024570.3(RNASEH2B):c.-112C>T rs184573722
NM_024570.3(RNASEH2B):c.-117C>G rs553446261
NM_024570.3(RNASEH2B):c.-181G>A rs886050288
NM_024570.3(RNASEH2B):c.-210G>C rs112702177
NM_024570.3(RNASEH2B):c.-228C>A rs577725827
NM_024570.3(RNASEH2B):c.-313C>G rs886050287
NM_024570.3(RNASEH2B):c.-399C>G rs553965425
NM_024570.3(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.699-11A>G rs886050290
NM_024570.3(RNASEH2B):c.756A>G (p.Ser252=) rs200721645
NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_024570.3(RNASEH2B):c.897C>A (p.Thr299=) rs886050291
NM_024570.3(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_032193.3(RNASEH2C):c.*27C>G rs886048500
NM_032193.3(RNASEH2C):c.*29A>G rs886048499
NM_032193.3(RNASEH2C):c.*45_*46insG rs886048498
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.3(RNASEH2C):c.-27G>T rs549471118
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.3(RNASEH2C):c.173-14G>A rs886048502
NM_032193.3(RNASEH2C):c.173-4C>G rs886048501
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526
NM_032193.3(RNASEH2C):c.348+6C>T rs779293116
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468+5G>C rs753880827
NM_032193.3(RNASEH2C):c.468+8G>A rs751767695
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_033629.4(TREX1):c.-510delC rs3135939
NM_033629.5(TREX1):c.-117C>T rs548710061
NM_033629.5(TREX1):c.-127G>C rs577465983
NM_033629.5(TREX1):c.-199A>G rs767364235
NM_033629.5(TREX1):c.-206G>T rs886058622
NM_033629.5(TREX1):c.-287C>T rs377157141
NM_033629.5(TREX1):c.-515T>C rs148393533
NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-100C>T rs886058623
NM_033629.6(TREX1):c.-26-1G>A rs749323787
NM_033629.6(TREX1):c.-50_-47CTGC[4] rs371036312
NM_033629.6(TREX1):c.-60C>T rs2279076
NM_033629.6(TREX1):c.-68T>C rs3135941
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.312G>C (p.Leu104=) rs56162833
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.418A>G (p.Met140Val) rs761526437
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.536T>C (p.Leu179Pro) rs886058625
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_033629.6(TREX1):c.9G>A (p.Ser3=) rs762687506
NM_080628.3(TLDC2):c.*28T>C rs45595032
NM_080628.3(TLDC2):c.*43G>A rs115645414
NM_080628.3(TLDC2):c.18-170C>T rs143588093
NM_080628.3(TLDC2):c.18-1G>T rs138927042
NM_080628.3(TLDC2):c.18-218T>C rs114791229
NM_080628.3(TLDC2):c.18-25A>G rs147220022
NM_080628.3(TLDC2):c.18-292C>T rs886056646
NM_080628.3(TLDC2):c.18-433T>C rs757372495
NM_080628.3(TLDC2):c.18-466G>A rs886056645
NM_080628.3(TLDC2):c.18-559G>A rs8124728
NM_080628.3(TLDC2):c.18-641T>G rs886056644
NM_080628.3(TLDC2):c.18-938G>C rs116489517
NM_182710.3(KAT5):c.*146C>T rs561937926
NM_182710.3(KAT5):c.*151G>A rs886048496
NM_182710.3(KAT5):c.*162C>G rs544558074
NM_182710.3(KAT5):c.*217G>T rs757672652
NM_182710.3(KAT5):c.*239G>A rs547082810
NM_182710.3(KAT5):c.*379C>T rs886048497
NM_182710.3(KAT5):c.*42G>A rs886048494
NM_182710.3(KAT5):c.*60C>T rs186106053
NM_182710.3(KAT5):c.*61G>A rs756513194
NM_182710.3(KAT5):c.*70G>C rs886048495
NM_182710.3(KAT5):c.1264+704G>A rs4645934
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-102A>G rs4645937
NM_182710.3(KAT5):c.1265-24C>G rs886048490
NM_182710.3(KAT5):c.1265-311C>T rs886048489
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-401C>T rs761492773
NM_182710.3(KAT5):c.1265-428T>C rs373799308
NM_182710.3(KAT5):c.1265-465C>G rs886048488
NM_182710.3(KAT5):c.1265-544G>A rs886048487
NM_182710.3(KAT5):c.1265-575G>A rs886048486
NM_182710.3(KAT5):c.1265-583G>A rs4645936
NM_182710.3(KAT5):c.1265-585G>C rs886048485
NM_182710.3(KAT5):c.1265-613C>T rs886048484
NM_182710.3(KAT5):c.1265-638C>T rs886048483
NM_182710.3(KAT5):c.1265-724A>G rs535111
NM_182710.3(KAT5):c.1265-784G>A rs886048482
NM_182710.3(KAT5):c.1424+17C>T rs4645938
NM_182710.3(KAT5):c.1425-30T>C rs767097041
NM_182710.3(KAT5):c.1425-36dup rs142614068
NM_182710.3(KAT5):c.1473T>G (p.Thr491=) rs886048491
NM_182710.3(KAT5):c.1507-11C>T rs201326733
NM_182710.3(KAT5):c.1524A>C (p.Thr508=) rs886048492
NM_182710.3(KAT5):c.1537A>T (p.Ile513Phe) rs886048493

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