ClinVar Miner

List of variants studied for central nervous system malformation by OMIM

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_138959.3(VANGL1):c.715G>A (p.Val239Ile) rs121918218 0.00006
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001519.4(BRF1):c.667C>T (p.Arg223Trp) rs370270828 0.00003
NM_001519.4(BRF1):c.776C>T (p.Thr259Met) rs373957300 0.00003
NM_005559.4(LAMA1):c.2986del (p.Thr996fs) rs587777679 0.00003
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) rs779945821 0.00003
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486 0.00003
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) rs1065764 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016059.5(PPIL1):c.280+1G>A rs374639625 0.00002
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675 0.00001
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261 0.00001
NM_001519.4(BRF1):c.677C>T (p.Ser226Leu) rs606231416 0.00001
NM_001519.4(BRF1):c.875C>A (p.Pro292His) rs606231450 0.00001
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) rs587777621 0.00001
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu) rs587777622 0.00001
NM_002449.5(MSX2):c.515G>A (p.Arg172His) rs104893896 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_013265.4(VPS51):c.1468C>T (p.Arg490Cys) rs1203009966 0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) rs387907195 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016111.4(TELO2):c.1826G>A (p.Arg609His) rs754162070 0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu) rs369656775 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_020320.5(RARS2):c.1024A>G (p.Met342Val) rs387907048 0.00001
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) rs104894193 0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318 0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573 0.00001
NM_025233.7(COASY):c.1486-3C>G rs577714887 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780 0.00001
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile) rs1057519296 0.00001
NM_138773.4(SLC25A46):c.691C>T (p.Arg231Ter) rs751101419 0.00001
NM_153240.5(NPHP3):c.1729C>T (p.Arg577Ter) rs119456962 0.00001
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) rs786205229 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NC_000005.10:g.174694600_174931940delinsTATAATATGTGTGTATATAATATATATATTACAATATA
NC_000023.11:g.(41853228_41922929)(41923555_?)del
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_000314.8(PTEN):c.335T>C (p.Leu112Pro) rs121909230
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter) rs121909220
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) rs796065045
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) rs869312909
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) rs869312910
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001128159.3(VPS53):c.2084A>G (p.Gln695Arg) rs587777465
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001135146.2(SLC39A8):c.1019T>A (p.Ile340Asn) rs864309659
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001199198.3(TBC1D23):c.1475_1476del (p.Val492fs)
NM_001199198.3(TBC1D23):c.1526delinsAA (p.Ile509fs) rs1553730885
NM_001199198.3(TBC1D23):c.1687+1G>A rs1553731603
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001199198.3(TBC1D23):c.1687+2T>G
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001272071.2(AP1S2):c.180-5_180-2del rs587776738
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_001272071.2(AP1S2):c.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001366285.2(TBXT):c.512A>G (p.His171Arg) rs587777303
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.915G>A (p.Lys305=) rs387906499
NM_001368809.2(AMPD2):c.1492del (p.Asp498fs) rs587777391
NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter) rs875989844
NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp) rs587777392
NM_001368809.2(AMPD2):c.2215G>T (p.Asp739Tyr) rs587777394
NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter) rs587777393
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001384732.1(CPLANE1):c.3150-1G>T rs606231258
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs) rs1564035076
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter) rs1840249855
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) rs587777622
NM_002449.5(MSX2):c.265_266delinsTA (p.Ala89Ter) rs121912971
NM_002449.5(MSX2):c.345del (p.Ala114_Trp115insTer) rs121912972
NM_002449.5(MSX2):c.475_480del (p.Arg159_Lys160del) rs2113498725
NM_002449.5(MSX2):c.548_555del (p.Glu183fs) rs1561643060
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.3(OPHN1):c.644_645del (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002768.5(CHMP1A):c.28-13G>A rs398122918
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter) rs1311614264
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys) rs2131848604
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp) rs2131792567
NM_004897.5(MINPP1):c.223_224insGGGGG (p.Glu75fs) rs1851221121
NM_004897.5(MINPP1):c.300del (p.Lys101fs) rs2131793302
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs) rs1323094107
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_004958.4(MTOR):c.4366T>G (p.Trp1456Gly) rs1085307114
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys) rs869312666
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile) rs878855328
NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln) rs1085307113
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro) rs1085307113
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1202T>C (p.Leu401Pro) rs587777624
NM_005033.3(EXOSC9):c.151G>C (p.Gly51Arg) rs2149033494
NM_005033.3(EXOSC9):c.239T>G (p.Leu80Arg) rs781301648
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) rs372318863
NM_005033.3(EXOSC9):c.484dup (p.Arg162fs) rs1726969482
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys) rs397514606
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) rs397514605
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs) rs587777680
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter) rs587777681
NM_005559.4(LAMA1):c.588+2T>G rs587777677
NM_005559.4(LAMA1):c.7965-15_7965-3del rs587777678
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) rs397514565
NM_006218.4(PIK3CA):c.1356AGA[1] (p.Glu453del) rs587776933
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_013265.4(VPS51):c.1421_1423del (p.Phe474del) rs752863502
NM_013265.4(VPS51):c.2232del (p.Asp745fs) rs1590815040
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) rs863225429
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_014875.3(KIF14):c.1750_1751del (p.Glu584fs) rs786201012
NM_014875.3(KIF14):c.1780A>T (p.Arg594Ter) rs786201013
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs) rs672601331
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys) rs730882145
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016046.5(EXOSC1):c.104C>T (p.Ser35Leu) rs2133168246
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) rs199818754
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) rs1583103432
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) rs773876739
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_018027.5(FRMD4A):c.2134_2146dup (p.Gly716fs) rs869025338
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln) rs775141057
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) rs2136887072
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys) rs866373727
NM_020134.4(DPYSL5):c.139G>A (p.Gly47Arg) rs1558337060
NM_020314.7(VPS35L):c.2488G>A (p.Ala830Thr) rs747119819
NM_020314.7(VPS35L):c.830dup (p.Cys277fs) rs1972596669
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_021620.4(PRDM13):c.800del (p.Gly267fs) rs2114499988
NM_021620.4(PRDM13):c.839del (p.Ala280fs) rs2114500026
NM_021620.4(PRDM13):c.844del (p.Val282fs) rs2114500035
NM_021926.4(ALX4):c.385_394del (p.Cys129fs) rs387906325
NM_021926.4(ALX4):c.418C>T (p.Gln140Ter) rs104894191
NM_021926.4(ALX4):c.504del (p.Asp169fs) rs587776614
NM_021926.4(ALX4):c.620C>A (p.Ser207Ter) rs104894197
NM_021926.4(ALX4):c.646C>G (p.Arg216Gly) rs587777700
NM_021926.4(ALX4):c.736C>T (p.Gln246Ter) rs104894192
NM_021926.4(ALX4):c.815G>C (p.Arg272Pro) rs104894196
NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs) rs587777702
NM_022154.5(SLC39A8):c.[97G>A;1004G>C]
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025077.4(TOE1):c.940_941del (p.Gln314fs) rs780563835
NM_025077.4(TOE1):c.957C>A (p.His319Gln) rs758153898
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_025233.7(COASY):c.1549_1550del (p.Ser517fs) rs766482965
NM_025233.7(COASY):c.1664G>A (p.Arg555His)
NM_025265.4(TSEN2):c.691C>T (p.Gln231Ter) rs730880294
NM_025265.4(TSEN2):c.934G>A (p.Gly312Arg) rs886037739
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738
NM_033026.6(PCLO):c.10624C>T (p.Arg3542Ter) rs746260871
NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) rs730882223
NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys) rs879253779
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro) rs1057519294
NM_138773.4(SLC25A46):c.326+549_385-1240del
NM_138773.4(SLC25A46):c.42C>G (p.Tyr14Ter) rs771761288
NM_138773.4(SLC25A46):c.462+1G>A rs1799819389
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750
NM_153816.2(SNX14):c.1108+1181_2108-2342del
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) rs876657385
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) rs876657387
NM_153816.6(SNX14):c.645dup (p.Glu216fs) rs869320748
NM_178161.3(PTF1A):c.437_460del (p.Ala146_Arg154delinsGly)
NM_178161.3(PTF1A):c.705dup (p.Pro236fs) rs886039746
NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter) rs104894186
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) rs606231285
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter) rs113994154
NM_207346.3(TSEN54):c.1172_1185del (p.Gln391fs) rs886037629
NM_207346.3(TSEN54):c.468+2T>C rs886037740
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
TSEN54:c.[277T>C;919G>T]

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