ClinVar Miner

List of variants reported by Wendy Chung Laboratory, Columbia University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001204.7(BMPR2):c.2140G>T (p.Ala714Ser) rs149067277 0.00031
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_001127217.3(SMAD9):c.1156A>G (p.Asn386Asp) rs142213379 0.00009
NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) rs372115732 0.00008
NM_001321120.2(TBX4):c.1106G>A (p.Arg369His) rs765868170 0.00006
NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr) rs769578381 0.00006
NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser) rs536406541 0.00005
NM_001204.7(BMPR2):c.775C>T (p.Arg259Cys) rs760996563 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg) rs146829316 0.00004
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter) rs759293027 0.00003
NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys) rs773135384 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) rs147641113 0.00002
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) rs200429513 0.00002
NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu) rs760185283 0.00002
NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter) rs199971720 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001203.3(BMPR1B):c.547T>C (p.Ser183Pro) rs141691706 0.00001
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu) rs61739275 0.00001
NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg) rs577394793 0.00001
NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys) rs765739860 0.00001
NM_001321120.2(TBX4):c.1426A>C (p.Asn476His) rs1181682853 0.00001
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) rs774711057 0.00001
NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln) rs746247653 0.00001
NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser) rs917982090 0.00001
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs) rs1560082927 0.00001
NM_001753.5(CAV1):c.238A>G (p.Ser80Gly) rs369884333 0.00001
NM_006035.4(CDC42BPB):c.424G>A (p.Ala142Thr) rs1198710710 0.00001
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter) rs146583835
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) rs2145004155
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) rs2144980726
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu) rs2144833336
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs) rs2144649756
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) rs2144647872
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) rs2144629622
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) rs2144622461
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) rs2144523407
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) rs1085307301
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1154C>G (p.Pro385Arg) rs2106019955
NM_001204.7(BMPR2):c.1175T>A (p.Val392Glu) rs1085307309
NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.1361C>T (p.Ser454Phe) rs1347010932
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter) rs1085307346
NM_001204.7(BMPR2):c.1413+1G>A rs1085307349
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) rs1085307358
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter) rs1085307360
NM_001204.7(BMPR2):c.1492G>A (p.Glu498Lys) rs757981921
NM_001204.7(BMPR2):c.1509A>C (p.Glu503Asp) rs1060502583
NM_001204.7(BMPR2):c.1524G>A (p.Trp508Ter) rs2106042229
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.1744A>T (p.Lys582Ter) rs2105711272
NM_001204.7(BMPR2):c.1748dup (p.Asn583fs) rs772920507
NM_001204.7(BMPR2):c.1939_1940del (p.Gln647fs) rs2105711563
NM_001204.7(BMPR2):c.1958del (p.Pro653fs) rs2105711575
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.2073dup (p.Gln692fs) rs2105711699
NM_001204.7(BMPR2):c.211G>A (p.Glu71Lys) rs1553503208
NM_001204.7(BMPR2):c.2146G>T (p.Glu716Ter) rs2105711807
NM_001204.7(BMPR2):c.218C>A (p.Ser73Ter) rs137852742
NM_001204.7(BMPR2):c.2202del (p.Pro735fs) rs1688559190
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2268del (p.Ser757fs) rs2105711988
NM_001204.7(BMPR2):c.2396dup (p.His800fs) rs2105712163
NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs) rs1085307383
NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs) rs2105712248
NM_001204.7(BMPR2):c.2457_2464del (p.Ala820fs) rs2105712268
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) rs1085307197
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter) rs1085307198
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2651_2652insAT (p.Asp885fs) rs2105712531
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter) rs1085307400
NM_001204.7(BMPR2):c.2952del (p.Trp984fs) rs2105716153
NM_001204.7(BMPR2):c.297T>G (p.Cys99Trp) rs2105962254
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter) rs1085307152
NM_001204.7(BMPR2):c.419-1G>T rs2106002050
NM_001204.7(BMPR2):c.419-38del rs10714063
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) rs1085307153
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) rs1574486033
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.76+1G>A rs1085307155
NM_001204.7(BMPR2):c.76+2T>C rs1085307156
NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.852+1G>A rs1085307266
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.935T>C (p.Leu312Pro) rs2106008434
NM_001204.7(BMPR2):c.947A>G (p.His316Arg) rs2106008443
NM_001204.7(BMPR2):c.967G>A (p.Asp323Asn) rs2106008499
NM_001204.7(BMPR2):c.995G>C (p.Arg332Pro) rs2106018078
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly) rs751046231
NM_001321120.2(TBX4):c.-3-581G>A rs947798202
NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter) rs2143862882
NM_001321120.2(TBX4):c.1021+1G>A rs1428934331
NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro) rs2143862912
NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys) rs767227688
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) rs1603256040
NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter) rs2143870166
NM_001321120.2(TBX4):c.1077del (p.Ser360fs) rs1555883805
NM_001321120.2(TBX4):c.1115del (p.Pro372fs) rs754897911
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) rs754897911
NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter) rs1183527120
NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter) rs1183527120
NM_001321120.2(TBX4):c.113dup (p.Leu39fs) rs2143792404
NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs) rs1603256095
NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs) rs2143870712
NM_001321120.2(TBX4):c.1167dup (p.Arg390fs) rs1569046598
NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro) rs2143870757
NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln) rs1224135577
NM_001321120.2(TBX4):c.1354A>G (p.Met452Val) rs2143871702
NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs) rs2143872061
NM_001321120.2(TBX4):c.143dup (p.Pro50fs) rs1414958198
NM_001321120.2(TBX4):c.1461dup (p.Pro488fs) rs2143872274
NM_001321120.2(TBX4):c.146del (p.Gly49fs) rs2143792571
NM_001321120.2(TBX4):c.150del (p.Ala52fs) rs2143792602
NM_001321120.2(TBX4):c.153_181del (p.Val54fs) rs2143792619
NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys) rs2143872706
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) rs28936696
NM_001321120.2(TBX4):c.167C>T (p.Ala56Val) rs2143792797
NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs) rs2143792897
NM_001321120.2(TBX4):c.210dup (p.Leu71fs) rs2143795994
NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg) rs2143796152
NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter) rs2143796161
NM_001321120.2(TBX4):c.251del (p.Gly84fs) rs1603248606
NM_001321120.2(TBX4):c.287T>A (p.Met96Lys) rs2143820885
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) rs2143820895
NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) rs1555882009
NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu) rs1555882009
NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys) rs2143820920
NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu) rs2143820942
NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys) rs2143821059
NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) rs2143821228
NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser) rs2143821238
NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser) rs2143821275
NM_001321120.2(TBX4):c.40_49del (p.Phe14fs) rs1603248167
NM_001321120.2(TBX4):c.432G>T (p.Met144Ile) rs777426077
NM_001321120.2(TBX4):c.500_502del (p.Ser167del) rs2143825874
NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1]) rs2143825901
NM_001321120.2(TBX4):c.524_527del (p.Asn175fs) rs2143825923
NM_001321120.2(TBX4):c.529C>T (p.His177Tyr) rs2143825981
NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser) rs2143826017
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) rs1555882291
NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs) rs2143856709
NM_001321120.2(TBX4):c.569A>C (p.His190Pro) rs2143856758
NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del) rs2143856765
NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter) rs1209188502
NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter) rs747369610
NM_001321120.2(TBX4):c.664del (p.Thr222fs) rs2143857127
NM_001321120.2(TBX4):c.670_672del (p.Phe224del) rs1555883338
NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr) rs2143857179
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr) rs2143860870
NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) rs2143860927
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) rs1555883469
NM_001321120.2(TBX4):c.789del (p.Ser264fs) rs2143861174
NM_001321120.2(TBX4):c.792-1G>C rs1603255224
NM_001321120.2(TBX4):c.847dup (p.Gln283fs) rs766300906
NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter) rs2143862349
NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter) rs2060654004
NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter) rs202061937
NM_001321120.2(TBX4):c.972del (p.Thr326fs) rs1603255327
NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr) rs150233337
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) rs2108829926
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met) rs1489314131
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs) rs746602775
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter) rs200914446
NM_001697.3(ATP5PO):c.87+3A>G rs1987287870
NM_004329.3(BMPR1A):c.1128del (p.Cys377fs) rs2133593822
NM_004329.3(BMPR1A):c.1141dup (p.Leu381fs) rs2133593957
NM_004329.3(BMPR1A):c.1172C>A (p.Thr391Lys) rs1589292560
NM_004329.3(BMPR1A):c.117del (p.Asp40fs) rs2133394844
NM_004329.3(BMPR1A):c.118dup (p.Asp40fs) rs2133394924
NM_004329.3(BMPR1A):c.1191_1192del (p.Leu398fs) rs2133606112
NM_004329.3(BMPR1A):c.1197del (p.Asn399fs) rs2133606200
NM_004329.3(BMPR1A):c.1233_1236dup (p.Leu413fs) rs2133606816
NM_004329.3(BMPR1A):c.1250_1253del (p.Leu417fs) rs2133607230
NM_004329.3(BMPR1A):c.137dup (p.Asn46fs) rs2133395223
NM_004329.3(BMPR1A):c.1450T>C (p.Ser484Pro) rs1554891611
NM_004329.3(BMPR1A):c.1468G>A (p.Asp490Asn) rs2133622472
NM_004329.3(BMPR1A):c.1549del (p.Ile517fs) rs2133625142
NM_004329.3(BMPR1A):c.165dup (p.Pro57fs) rs2133395676
NM_004329.3(BMPR1A):c.199dup (p.Cys67fs) rs2133396260
NM_004329.3(BMPR1A):c.201T>G (p.Cys67Trp) rs1843127956
NM_004329.3(BMPR1A):c.203del (p.Pro68fs) rs2133396343
NM_004329.3(BMPR1A):c.211G>A (p.Ala71Thr) rs1589763471
NM_004329.3(BMPR1A):c.211del (p.Ala71fs) rs2133396549
NM_004329.3(BMPR1A):c.258del (p.Ile86fs) rs2133408025
NM_004329.3(BMPR1A):c.277dup (p.Glu93fs) rs2133408360
NM_004329.3(BMPR1A):c.279_280del (p.Glu93fs) rs2133408386
NM_004329.3(BMPR1A):c.345del (p.Ala116fs) rs2133453304
NM_004329.3(BMPR1A):c.452_453del (p.Ile151fs) rs2133456350
NM_004329.3(BMPR1A):c.524del (p.Cys175fs) rs2133457979
NM_004329.3(BMPR1A):c.53_64del (p.Ile18_Gln22delinsLys) rs2133321799
NM_004329.3(BMPR1A):c.544_545del (p.Ser182fs) rs2133543741
NM_004329.3(BMPR1A):c.688A>T (p.Ile230Phe) rs730881433
NM_004329.3(BMPR1A):c.689_690del (p.Ile230fs) rs2133574639
NM_004329.3(BMPR1A):c.697del (p.Gln233fs) rs2133574820
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.7del (p.Gln3fs) rs2133321013
NM_004329.3(BMPR1A):c.835dup (p.Gln279fs) rs2133577380
NM_004329.3(BMPR1A):c.862dup (p.Ile288fs) rs2133577795
NM_004329.3(BMPR1A):c.872dup (p.Ile292fs) rs2133588875
NM_004329.3(BMPR1A):c.893G>A (p.Gly298Asp) rs2133589292
NM_004329.3(BMPR1A):c.894_895dup (p.Thr299fs) rs2133589338
NM_004329.3(BMPR1A):c.918_921del (p.Leu305_Tyr306insTer) rs2133589848
NM_004329.3(BMPR1A):c.942_943insA (p.Gly315fs) rs2133590212
NM_004329.3(BMPR1A):c.969dup (p.Ala324fs) rs2133590855
NM_004329.3(BMPR1A):c.994C>T (p.Leu332Phe) rs2133591377
NM_006035.4(CDC42BPB):c.1630dup (p.Glu544fs) rs1595482918
NM_006035.4(CDC42BPB):c.2290C>T (p.Arg764Ter) rs1595476797
NM_006035.4(CDC42BPB):c.2599C>T (p.Arg867Cys) rs1595472764
NM_006035.4(CDC42BPB):c.2612T>C (p.Leu871Pro) rs1595472756
NM_006035.4(CDC42BPB):c.2626C>T (p.Arg876Trp) rs1595472741
NM_006035.4(CDC42BPB):c.2627G>C (p.Arg876Pro) rs1595472739
NM_006035.4(CDC42BPB):c.37_50del (p.Leu13fs) rs1595208914
NM_006035.4(CDC42BPB):c.3896G>A (p.Arg1299Gln) rs1595450393
NM_006035.4(CDC42BPB):c.4049G>C (p.Arg1350Pro) rs1595450125
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr) rs1595127294
NM_006035.4(CDC42BPB):c.879C>G (p.Ile293Met) rs1016320330
NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu) rs1230283665
NM_006295.3(VARS1):c.65C>A (p.Ala22Asp) rs1268435074
NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)
NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)
NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)
NM_017934.7(PHIP):c.1463A>T (p.Asp488Val) rs2127740526
NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)
NM_017934.7(PHIP):c.1523dup (p.Met508fs)
NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)
NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg) rs1562171209
NM_017934.7(PHIP):c.1654-2A>C
NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)
NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)
NM_017934.7(PHIP):c.2744_2747del (p.Lys915fs) rs1562150844
NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly) rs2127714980
NM_017934.7(PHIP):c.2890-2A>G
NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)
NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer) rs1562134961
NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)
NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)
NM_017934.7(PHIP):c.3499del (p.Arg1167fs)
NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer) rs1562127631
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs) rs1766794792
NM_017934.7(PHIP):c.3782+3_3782+6del rs1131691771
NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)
NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)
NM_017934.7(PHIP):c.41-7C>A
NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)
NM_017934.7(PHIP):c.439+5G>T
NM_017934.7(PHIP):c.4570del (p.Ser1524fs) rs1562114190
NM_017934.7(PHIP):c.4979del (p.Gly1660fs)
NM_017934.7(PHIP):c.540_541insA (p.Gly181fs) rs1562203136
NM_017934.7(PHIP):c.598_599delinsT (p.Thr200fs) rs1554210073
NM_017934.7(PHIP):c.686C>T (p.Ser229Leu) rs755604487
NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)
NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr) rs1085307845
NM_198565.3(NRROS):c.1222A>C (p.Asn408His) rs2108643995

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