ClinVar Miner

List of variants studied for Moyamoya syndrome by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 512
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HGVS dbSNP
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000002.11:g.(?_163144625)_(163144885_?)del
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000013.10:g.(?_51528021)_(51530630_?)del
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000020.10:g.(?_35532540)_(35540975_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35579819)_(35580066_?)del
NC_000020.10:g.(?_35579829)_(35580056_?)del
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala) rs1456341426
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser) rs1557886901
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys)
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp)
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr)
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg)
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
NM_001111.5(ADAR):c.165G>T (p.Pro55=) rs570176840
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly)
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+4G>A
NM_001111.5(ADAR):c.1824_1826CTT[1] (p.Phe610del)
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049
NM_001111.5(ADAR):c.1890C>T (p.Cys630=) rs558496566
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala)
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His)
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)
NM_001111.5(ADAR):c.475C>G (p.His159Asp)
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr)
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111.5(ADAR):c.594G>A (p.Ala198=) rs563756226
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.718G>C (p.Asp240His)
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) rs765669048
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) rs771889800
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr)
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu)
NM_001142279.2(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_001142279.2(RNASEH2B):c.121del (p.Val41fs) rs1452451283
NM_001142279.2(RNASEH2B):c.136+1del rs75186889
NM_001142279.2(RNASEH2B):c.510+1del
NM_001142279.2(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn)
NM_005343.4(HRAS):c.-10C>T rs41294870
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.111+6C>T rs377130570
NM_005343.4(HRAS):c.112-10C>T rs727503092
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) rs763920334
NM_005343.4(HRAS):c.141T>C (p.Asp47=) rs765092617
NM_005343.4(HRAS):c.153C>T (p.Cys51=) rs759482455
NM_005343.4(HRAS):c.156G>A (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.156G>T (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.16C>T (p.Leu6=) rs763376142
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) rs878854757
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser)
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.219C>T (p.Arg73=) rs749870259
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.249C>T (p.Ala83=) rs111372582
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala)
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G
NM_005343.4(HRAS):c.290+9C>T rs747854581
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207
NM_005343.4(HRAS):c.312G>A (p.Lys104=) rs1060504682
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.339G>A (p.Leu113=) rs878854759
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp)
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn)
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) rs1471385417
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.41T>G (p.Val14Gly)
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.42G>A (p.Val14=) rs777038147
NM_005343.4(HRAS):c.435G>A (p.Ser145=) rs747008553
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.441G>A (p.Lys147=) rs777386438
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.451-3C>T
NM_005343.4(HRAS):c.451-5C>G rs370181298
NM_005343.4(HRAS):c.451-5C>T rs370181298
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) rs745497215
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.474G>A (p.Thr158=) rs747269683
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp)
NM_005343.4(HRAS):c.498C>A (p.His166Gln) rs878854760
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143
NM_005343.4(HRAS):c.516C>T (p.Asn172=) rs765180494
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.519T>G (p.Pro173=) rs759004302
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
NM_005343.4(HRAS):c.534C>G (p.Gly178=) rs770431635
NM_005343.4(HRAS):c.537C>T (p.Pro179=) rs371316832
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813
NM_005343.4(HRAS):c.54G>A (p.Ala18=) rs148380285
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.5C>T (p.Thr2Met)
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe)
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.175G>C (p.Asp59His)
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln)
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn)
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
NM_006270.5(RRAS):c.649C>G (p.Leu217Val)
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro)
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) rs891089016
NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val)
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.2(RNASEH2A):c.324-6C>A
NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) rs375139492
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr)
NM_006397.2(RNASEH2A):c.412-6T>G rs192358167
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) rs201413125
NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln)
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) rs758492414
NM_006397.2(RNASEH2A):c.566C>A (p.Ala189Asp)
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.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp)
NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys)
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu)
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006397.2(RNASEH2A):c.79G>C (p.Glu27Gln)
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2162-4C>A rs57179949
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
NM_006939.4(SOS2):c.2268T>G (p.Pro756=) rs1555369534
NM_006939.4(SOS2):c.2304G>T (p.Gln768His)
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354
NM_006939.4(SOS2):c.3075+7C>T rs144391749
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3540_3542TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.600T>C (p.Tyr200=) rs766470992
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.714T>G (p.Ser238=)
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser)
NM_006939.4(SOS2):c.858+9A>G rs201701595
NM_006939.4(SOS2):c.859-10A>T rs761341096
NM_015474.3(SAMHD1):c.1174A>G (p.Lys392Glu)
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser)
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
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.1408del (p.Arg470fs) rs1568762986
NM_015474.3(SAMHD1):c.1410+5G>T
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_015474.3(SAMHD1):c.1453C>T (p.Pro485Ser)
NM_015474.3(SAMHD1):c.1476del (p.Lys492fs)
NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
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.1746+4_1746+15del rs1568758975
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.2T>A (p.Met1Lys)
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val)
NM_015474.3(SAMHD1):c.400C>T (p.Arg134Ter)
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.494_495dup (p.Glu166fs)
NM_015474.3(SAMHD1):c.510G>C (p.Gly170=)
NM_015474.3(SAMHD1):c.541G>A (p.Ala181Thr)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.610C>T (p.Leu204Phe)
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.658C>T (p.Arg220Ter)
NM_015474.3(SAMHD1):c.668C>T (p.Pro223Leu)
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=)
NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter)
NM_015474.3(SAMHD1):c.728A>C (p.His243Pro)
NM_015474.3(SAMHD1):c.733A>G (p.Ile245Val)
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015474.3(SAMHD1):c.831A>T (p.Glu277Asp)
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp)
NM_022168.4(IFIH1):c.1524+2T>G
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
NM_022168.4(IFIH1):c.2016_2019AGAT[1] (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2045-1G>A
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2454+6T>C rs6748554
NM_022168.4(IFIH1):c.2455-7T>A rs41399348
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.2616+6G>T
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)
NM_022168.4(IFIH1):c.2807+1G>A rs35732034
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)
NM_022168.4(IFIH1):c.283A>G (p.Met95Val)
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) rs1553696482
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)
NM_022168.4(IFIH1):c.301G>C (p.Asp101His)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro)
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=)
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.179T>G (p.Leu60Arg)
NM_024570.3(RNASEH2B):c.189A>G (p.Val63=) rs35595258
NM_024570.3(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_024570.3(RNASEH2B):c.2T>C (p.Met1Thr)
NM_024570.3(RNASEH2B):c.308A>G (p.Lys103Arg)
NM_024570.3(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_024570.3(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937
NM_024570.3(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_024570.3(RNASEH2B):c.428A>T (p.Glu143Val)
NM_024570.3(RNASEH2B):c.445G>C (p.Glu149Gln)
NM_024570.3(RNASEH2B):c.448A>G (p.Ile150Val)
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.488C>T (p.Thr163Ile)
NM_024570.3(RNASEH2B):c.510+1G>A
NM_024570.3(RNASEH2B):c.523G>A (p.Val175Met)
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.659T>C (p.Ile220Thr)
NM_024570.3(RNASEH2B):c.667G>T (p.Glu223Ter) rs1555257383
NM_024570.3(RNASEH2B):c.719C>G (p.Ser240Ter)
NM_024570.3(RNASEH2B):c.782A>T (p.Asp261Val)
NM_024570.3(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383
NM_024570.3(RNASEH2B):c.822+5G>A
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys)
NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly)
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu)
NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp)
NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly)
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
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.219G>A (p.Pro73=) rs778992418
NM_033629.6(TREX1):c.250A>G (p.Ile84Val)
NM_033629.6(TREX1):c.251T>C (p.Ile84Thr)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.338G>A (p.Arg113Gln)
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.382C>T (p.Arg128Cys) rs199614534
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.484C>T (p.Leu162=) rs1553820257
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.587C>T (p.Thr196Met) rs754998766
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)
NM_033629.6(TREX1):c.640G>A (p.Ala214Thr)
NM_033629.6(TREX1):c.690G>C (p.Arg230Ser)
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.734C>G (p.Pro245Arg)
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_033629.6(TREX1):c.869C>T (p.Pro290Leu)
NM_033629.6(TREX1):c.899C>T (p.Ala300Val) rs1553820567
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715
NM_080628.3(TLDC2):c.*172G>A rs35102927
NM_080628.3(TLDC2):c.*216C>T

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