ClinVar Miner

List of variants reported as pathogenic for Moyamoya syndrome

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 304
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xq28(chrX:154305031-154307464)
NC_000023.10:g.168551_155233098del
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) rs35699606
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) rs35256489
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.*110T>C rs33978907
NM_000518.5(HBB):c.-106G>C rs63750681
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>T rs33941377
NM_000518.5(HBB):c.-78A>C rs33931746
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) rs33922842
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819
NM_000518.5(HBB):c.25_26del (p.Lys9fs) rs35497102
NM_000518.5(HBB):c.2T>G (p.Met1Arg) rs33941849
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.316-197C>T rs34451549
NM_000518.5(HBB):c.316-2A>G rs33914668
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) rs33946267
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) rs63750783
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter) rs587777321
NM_001130682.3(GUCY1A1):c.1086+1G>A rs587777320
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs) rs587777322
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) rs1368733883
NM_001130682.3(GUCY1A1):c.332_333GA[1] (p.Glu112fs) rs781020381
NM_001354689.3(RAF1):c.1532C>G (p.Thr511Arg) rs80338799
NM_001354689.3(RAF1):c.1532C>T (p.Thr511Ile) rs80338799
NM_001354689.3(RAF1):c.1897C>G (p.Leu633Val) rs80338797
NM_001354689.3(RAF1):c.505G>C (p.Gly169Arg) rs886039607
NM_001354689.3(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_001354689.3(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_001354689.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_001354689.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_001354689.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_001354689.3(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_001354689.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_001354689.3(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_001374258.1(BRAF):c.1575G>C (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1575G>T (p.Leu525Phe) rs180177036
NM_001374258.1(BRAF):c.1621G>A (p.Glu541Lys) rs180177038
NM_001374258.1(BRAF):c.1712G>C (p.Trp571Ser) rs397507478
NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg) rs180177041
NM_001374258.1(BRAF):c.1907G>T (p.Gly636Val) rs397507483
NM_001374258.1(BRAF):c.1909C>G (p.Leu637Val) rs121913369
NM_001374258.1(BRAF):c.1921A>C (p.Lys641Gln) rs121913364
NM_001374258.1(BRAF):c.1922A>C (p.Lys641Thr) rs397507484
NM_001374258.1(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_001374258.1(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) rs397514553
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) rs869025573
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) rs1593351503
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_005188.3(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1096-1G>T rs397517076
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) rs398122809
NM_005343.4(HRAS):c.110_111+1dup rs398122808
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) rs587777239
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.3(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.3(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.3(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.3(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.3(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.3(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.3(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.3(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.3(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg)
NM_006031.6(PCNT):c.1032+1G>A rs1569178877
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter) rs181690344
NM_006031.6(PCNT):c.1528dup (p.Thr510fs) rs1369869782
NM_006031.6(PCNT):c.1680-2A>G rs1555954786
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs) rs797045875
NM_006031.6(PCNT):c.1887del (p.Ala630fs) rs397509366
NM_006031.6(PCNT):c.196G>T (p.Gly66Ter) rs587779355
NM_006031.6(PCNT):c.1975dup (p.Asp659fs) rs1555956600
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) rs587784302
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter) rs1555962301
NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) rs119479063
NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter) rs387906928
NM_006031.6(PCNT):c.3465-1G>A rs755084205
NM_006031.6(PCNT):c.3568dup (p.Cys1190fs) rs397514033
NM_006031.6(PCNT):c.3840G>C (p.Gln1280His) rs1569239749
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter) rs1359618876
NM_006031.6(PCNT):c.4934_4935AG[2] (p.Arg1646fs) rs797045879
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter) rs587784308
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter) rs1315359733
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter) rs369195346
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs) rs587784312
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter) rs757577162
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) rs1555993038
NM_006031.6(PCNT):c.7796del (p.Leu2599fs) rs587784319
NM_006031.6(PCNT):c.7804G>T (p.Glu2602Ter) rs1555999948
NM_006031.6(PCNT):c.844dup (p.Glu282fs) rs1601795448
NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter) rs119479064
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs) rs587784320
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter) rs587784321
NM_006767.4(LZTR1):c.-38T>A rs1459786357
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508
NM_006767.4(LZTR1):c.1943-256C>T rs761685529
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165
NM_006767.4(LZTR1):c.993+1G>A
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189
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.230C>G (p.Ala77Gly)
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
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>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) rs868208063
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.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val) rs1557960039
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys) rs1595001710
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg) rs797045167
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) rs1591495776
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) rs1591495779
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_033360.4(KRAS):c.*12A>T rs104894360
NM_033360.4(KRAS):c.*20T>A rs397517042
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_033360.4(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_033360.4(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_033360.4(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_033360.4(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_033360.4(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776
NM_033360.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
PCNT, 3-BP DEL, 9460AAG
PCNT, 486-BP DEL, NT84

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.