ClinVar Miner

List of variants studied for schizophrenia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 374
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000795.4(DRD2):c.939T>C (p.His313=) rs6275 0.58390
NC_000011.10:g.2172610A>G rs10770141 0.56453
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.44044
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497 0.25693
NM_001330078.2(NRXN1):c.3365-110075G>A rs189873392 0.00970
NM_001330078.2(NRXN1):c.4217-16A>C rs74520052 0.00964
NM_001372044.2(SHANK3):c.1113-8C>T rs9628236 0.00917
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=) rs45572531 0.00187
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val) rs142617551 0.00183
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys) rs45496998 0.00176
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln) rs61734270 0.00098
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln) rs2066472 0.00031
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val) rs200100285 0.00028
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) rs201135028 0.00016
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile) rs202153689 0.00015
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_001330078.2(NRXN1):c.3365-109899A>G rs562219421 0.00012
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met) rs767890671 0.00011
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln) rs200042650 0.00007
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246 0.00006
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001330078.2(NRXN1):c.3365-109902C>T rs113067443 0.00004
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His) rs750323424 0.00004
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) rs367585605 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) rs201542547 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) rs764131110 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_006047.6(RBM12):c.2532del (p.Gly845fs) rs1262969313 0.00003
NM_001382430.1(AKT1):c.634-13C>T rs754944632 0.00002
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln) rs121434295 0.00002
NM_015316.3(PPP1R13B):c.215G>A (p.Arg72Gln) rs863223358 0.00002
NM_001326411.2(PISD):c.322-3886G>A rs863223357 0.00001
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630 0.00001
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) rs764347791 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) rs757748286 0.00001
NM_003774.5(GALNT4):c.1194C>T (p.Asn398=) rs863223348 0.00001
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=) rs745452577 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=) rs1428673436 0.00001
NM_005957.5(MTHFR):c.1632+2T>G rs749765738 0.00001
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) rs763539350 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro) rs121434297 0.00001
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys) rs371085894 0.00001
NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter) rs2056099559 0.00001
NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn) rs748809996 0.00001
NM_152701.5(ABCA13):c.11473+2T>C rs797045205 0.00001
GRCh37/hg19 22q11.21(chr22:19036286-21208284)x1
GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1
GRCh37/hg19 5q34(chr5:160715688-160717804)
GRCh37/hg19 5q34(chr5:160796703-160797020)
GRCh37/hg19 8q11.23(chr8:53468370-53720613)
GRCh38/hg38 2p16.3(chr2:50399054-50579740)x1
NC_000001.11:g.(?_109048899)_(109079629_?)del
NC_000001.11:g.(?_145430995)_(148257619_?)del
NC_000001.11:g.(?_145430995)_(148427734_?)del
NC_000001.11:g.(?_145580669)_(149095000_?)del
NC_000001.11:g.(?_145601945)_(146048346_?)del
NC_000002.12:g.(?_106445028)_(107839483_?)del
NC_000002.12:g.(?_11177745)_(16113827_?)del
NC_000002.12:g.(?_115503140)_(115527426_?)del
NC_000002.12:g.(?_130725519)_(131168548_?)del
NC_000002.12:g.(?_147990605)_(148350066_?)del
NC_000002.12:g.(?_148139385)_(148242336_?)del
NC_000002.12:g.(?_148157591)_(148226058_?)del
NC_000002.12:g.(?_148158424)_(148226279_?)del
NC_000002.12:g.(?_148211972)_(148423169_?)del
NC_000002.12:g.(?_177895779)_(177946731_?)del
NC_000002.12:g.(?_184830819)_(184884225_?)del
NC_000002.12:g.(?_196588283)_(196600831_?)del
NC_000002.12:g.(?_205102232)_(205198713_?)del
NC_000002.12:g.(?_205264941)_(205497509_?)del
NC_000002.12:g.(?_32528746)_(32559427_?)del
NC_000002.12:g.(?_50721552)_(50944617_?)del
NC_000002.12:g.(?_50836961)_(51084060_?)del
NC_000002.12:g.(?_50975328)_(51121693_?)del
NC_000002.12:g.(?_96063558)_(97079140_?)del
NC_000002.12:g.239921648_239921688del
NC_000002.12:g.239925792_239928083del
NC_000003.12:g.(?_1264992)_(1295956_?)del
NC_000003.12:g.(?_187222939)_(194312782_?)del
NC_000003.12:g.(?_188343948)_(188435451_?)del
NC_000003.12:g.(?_188420063)_(188540464_?)del
NC_000003.12:g.(?_195990063)_(197617301_?)del
NC_000003.12:g.(?_196154147)_(197376501_?)del
NC_000003.12:g.(?_41609544)_(41811095_?)del
NC_000003.12:g.(?_41760954)_(41858293_?)del
NC_000003.12:g.(?_41803875)_(41849829_?)del
NC_000003.12:g.(?_60389119)_(60571624_?)del
NC_000003.12:g.(?_60408194)_(60672864_?)del
NC_000003.12:g.(?_60438915)_(60817364_?)del
NC_000004.12:g.(?_92590068)_(92732357_?)del
NC_000004.12:g.(?_92930845)_(93092974_?)del
NC_000005.10:g.(?_11567352)_(11629138_?)del
NC_000005.10:g.(?_131428263)_(132208822_?)del
NC_000005.10:g.1448033A>G
NC_000006.12:g.(?_161816395)_(162018868_?)del
NC_000006.12:g.(?_161933685)_(162059574_?)del
NC_000006.12:g.(?_161966350)_(162292493_?)del
NC_000006.12:g.(?_161982200)_(162323320_?)del
NC_000006.12:g.(?_162088360)_(162527858_?)del
NC_000006.12:g.(?_162144053)_(162229459_?)del
NC_000006.12:g.(?_162145541)_(162226576_?)del
NC_000006.12:g.(?_162151583)_(162270607_?)del
NC_000006.12:g.(?_162166123)_(162288233_?)del
NC_000006.12:g.(?_162194743)_(162324250_?)del
NC_000006.12:g.(?_162200873)_(162544554_?)del
NC_000006.12:g.(?_162222675)_(162297617_?)del
NC_000006.12:g.(?_162229459)_(162495982_?)del
NC_000006.12:g.(?_162265361)_(162429333_?)del
NC_000006.12:g.(?_162267721)_(162302278_?)del
NC_000006.12:g.(?_162290852)_(162564693_?)del
NC_000006.12:g.(?_162308970)_(162630627_?)del
NC_000006.12:g.(?_162332720)_(162499424_?)del
NC_000006.12:g.(?_162349019)_(162495982_?)del
NC_000006.12:g.(?_162411708)_(162476625_?)del
NC_000006.12:g.(?_162609404)_(162813090_?)del
NC_000006.12:g.(?_57046622)_(57088889_?)del
NC_000006.12:g.(?_57046622)_(57092420_?)del
NC_000007.14:g.(?_103491380)_(103507508_?)del
NC_000007.14:g.(?_153822158)_(153968005_?)del
NC_000007.14:g.(?_81478831)_(84097791_?)del
NC_000008.11:g.(?_10252025)_(10336231_?)del
NC_000008.11:g.(?_1050516)_(1327901_?)del
NC_000008.11:g.(?_140417391)_(140444832_?)del
NC_000008.11:g.(?_2724493)_(4921893_?)del
NC_000008.11:g.(?_3873130)_(3959547_?)del
NC_000008.11:g.(?_3876145)_(3961401_?)del
NC_000008.11:g.(?_3876145)_(3967152_?)del
NC_000008.11:g.(?_3877806)_(3959547_?)del
NC_000008.11:g.(?_99047163)_(99227439_?)del
NC_000008.11:g.(?_99118484)_(99159135_?)del
NC_000009.12:g.(?_10000)_(400952_?)del
NC_000009.12:g.(?_116634744)_(116742416_?)del
NC_000009.12:g.(?_116683530)_(116733612_?)del
NC_000009.12:g.(?_116683530)_(116876208_?)del
NC_000010.11:g.(?_54690788)_(54898513_?)del
NC_000011.10:g.(?_31405793)_(31548667_?)del
NC_000011.10:g.(?_84114371)_(84650078_?)del
NC_000011.10:g.(?_84405313)_(84547789_?)del
NC_000011.10:g.(?_84809995)_(84986152_?)del
NC_000011.10:g.(?_84877230)_(84963429_?)del
NC_000012.12:g.(?_2687956)_(2741851_?)del
NC_000013.11:g.(?_22968338)_(24323208_?)del
NC_000013.11:g.(?_87545067)_(87934031_?)del
NC_000014.9:g.(?_33318664)_(33378429_?)del
NC_000015.10:g.(?_22444190)_(23226874_?)del
NC_000015.10:g.(?_22673143)_(23226874_?)del
NC_000015.10:g.(?_22673675)_(23126124_?)del
NC_000015.10:g.(?_22681827)_(23226874_?)del
NC_000015.10:g.(?_22751662)_(23126124_?)del
NC_000015.10:g.(?_22770232)_(23126124_?)del
NC_000015.10:g.(?_28821222)_(30470957_?)del
NC_000015.10:g.(?_30325774)_(32194551_?)del
NC_000016.10:g.(?_14780667)_(16415941_?)del
NC_000016.10:g.(?_15328439)_(16443962_?)del
NC_000016.10:g.(?_21928119)_(22428075_?)del
NC_000016.10:g.(?_28351819)_(29325073_?)del
NC_000016.10:g.(?_29627836)_(30184960_?)del
NC_000016.10:g.(?_6355716)_(6937802_?)del
NC_000016.10:g.(?_6360351)_(6582207_?)del
NC_000016.10:g.(?_6622570)_(6720408_?)del
NC_000016.10:g.(?_6631947)_(7029167_?)del
NC_000016.10:g.(?_6773909)_(6978067_?)del
NC_000016.10:g.(?_7029167)_(7099643_?)del
NC_000016.10:g.(?_79103200)_(79402155_?)del
NC_000016.10:g.(?_84593050)_(85516675_?)del
NC_000017.11:g.(?_14178908)_(15518547_?)del
NC_000017.11:g.(?_36357256)_(37995300_?)del
NC_000018.10:g.(?_47026162)_(47075742_?)del
NC_000018.10:g.(?_7773472)_(8250054_?)del
NC_000020.11:g.(?_14631584)_(14707775_?)del
NC_000020.11:g.(?_14656734)_(14876708_?)del
NC_000020.11:g.(?_42232174)_(42274201_?)del
NC_000020.11:g.(?_42472130)_(42562200_?)del
NC_000022.11:g.(?_18159879)_(21362822_?)del
NC_000022.11:g.(?_18159879)_(21387988_?)del
NC_000022.11:g.(?_18163926)_(21277123_?)del
NC_000022.11:g.(?_18802709)_(21343709_?)del
NC_000022.11:g.(?_18832909)_(21123588_?)del
NC_000022.11:g.(?_18846939)_(21221413_?)del
NC_000022.11:g.(?_18880919)_(20346734_?)del
NC_000022.11:g.(?_18880919)_(21123588_?)del
NC_000022.11:g.(?_20346735)_(21149007_?)del
NC_000022.11:g.(?_20346735)_(21277123_?)del
NC_000022.11:g.(?_20358985)_(21123588_?)del
NC_000022.11:g.(?_21956007)_(22224188_?)del
NC_000022.11:g.(?_22638171)_(23320336_?)del
NC_000022.11:g.50721470dup rs1555910162
NC_000023.11:g.(?_155530103)_(155550495_?)del
NC_000023.11:g.(?_155531678)_(155556173_?)del
NC_000023.11:g.(?_31774439)_(31859356_?)del
NC_000023.11:g.(?_32070396)_(32212245_?)del
NC_000023.11:g.(?_621471)_(636910_?)del
NC_000023.11:g.(?_6526750)_(8172018_?)del
NC_000023.11:g.(?_6536927)_(8156323_?)del
NC_000023.11:g.(?_6776477)_(7923774_?)del
NM_000046.5(ARSB):c.691-2429_691-2428insTGATAATCGATGTTACACTTTATAGAAAGAATATGATAAAAAATTTAACTTTTTTTTCTCTTTTCTCGATCACAAAAAGTGTATGAATACCGAGTATCGTAATCACCTATACTTAAATTGAATCCTGAGTTTCCACAGAGGTTAGTGTCACAAACCCTGGGGTGACGTCGTGTGTCAGTGGATCCTTGGACGGAGTCTCACTTGTCAGACACCAGTTAAAGGGTGTGAGGGATTTCAGGTTTGTCTTACTGAGTGCCGAGTGTTGACAGTCGGGATTTCGGTCGTCGACTCGGTAGTGCCTCGGGACTAGAGTAGGTGGGACGAAAAAGAGATCCAGGTCTAGGAAACTAGGAAA
NM_000178.4(GSS):c.129+1703_129+1704insTATGTGTGTGTGTGTGTGTGTGTTGTGTGTGTGGTGTGTGTGTTCGTTC
NM_000210.4(ITGA6):c.*91AGA[1] rs863223349
NM_000222.3(KIT):c.1231+2109_1231+2185del
NM_000314.8(PTEN):c.165-8956_165-8924del
NM_000336.3(SCNN1B):c.-8-15491_-8-15437del
NM_000404.4(GLB1):c.1068+2341_1068+2342insGCTTGGTATTTTTTCTGAGGGTATCTTTGCTTGGTATTTTTCTGAGTTAGCTTTTGCTTGTATTTTTTTTTCTGATGTACTTT
NM_000426.4(LAMA2):c.8704-401_8704-400insAAAATTGGGCCCCCCTGGGCGCGGTGGATCAAGCCTGTAATCCAGCACTTTGGGAGGGCCGAGGCCGGCGGATCCGAGGTCAGGAGATCCGAGACCATCCGAGCTAAAACGGTGAATTGAAACCCCGTCTTACTAAAAAATTACAAAAATTAGTCCGGGCTAGTGGCGGGCGATGTAGTCCAGCTACTGGGAGGCTGAGGCAGGAGAATGGCCCAGGGGAAACCCGGGAGGCGGGAGCTTGCAGAGCTGAGCCGAGGTCCCCGCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_000443.4(ABCB4):c.135+3688_135+3689insTTTATTTATTTTATTTTATTTTATATTATTTTTATCTTAT
NM_000489.6(ATRX):c.4557+897_4557+898insTGTTTTTTTTTTTTTTTTTGTAGTTTTTTTTTTTTTTTTGTGTG
NM_000489.6(ATRX):c.5135-5541_5135-5497del
NM_000492.4(CFTR):c.3367+201_3367+243del
NM_000507.4(FBP1):c.171-4630_171-4629insTCACTTTATTTTATTTTTTTTTTTTTGGAGACGGGAAGTCTCGCTTGTCGCCAGGATGGAGTGCAGTGGCGCAATCTCGGCTCAATGCAGGCTCCGACCCCCTGGGGTTCACGCCATTCTCCTGCCTGCAGACTCCGAGTAGCTGGGACTACAGGCGCCCGCCCACTCGCCCGGCTAATTTTTTTGTGTATTTTTAGTAGAGACGGGGTTCACCGTTGTGTTGAGCCAGGATGGTCTCGATCTCCCTGACCTCGGCTCCGCCCGTATCTTCGGGACTCCCAAAGTGTGGAGAGATTACAGGCGTGAGCCACCGCGGCCACGGCCTA
NM_000754.4(COMT):c.437C>G (p.Ala146Gly)
NM_000798.5(DRD5):c.978C>T (p.Pro326=)
NM_000810.4(GABRA5):c.497+8842_497+8896del
NM_000814.6(GABRB3):c.240+8206_240+8254del
NM_000949.7(PRLR):c.373+637_373+688del
NM_000949.7(PRLR):c.374-1769_374-1768insATATATATATATATTATATATATATCTATATATTATAT
NM_001012393.5(OPCML):c.62-182699_62-182663del
NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter) rs863223354
NM_001035.3(RYR2):c.2238A>C (p.Gln746His) rs863223355
NM_001040025.3(ARL16):c.-41G>T rs863223352
NM_001044.5(SLC6A3):c.*950_*989del
NM_001044.5(SLC6A3):c.419-3595A>T
NM_001080476.3(GRXCR1):c.384+27065_384+27066insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTTCTCGCTCTGAGCCAAGGCTGTGGCAGTGCAGTGGCGGGATATCGGCTCACTGCAAGCCTCCGGCCTCGGTCACGCCATTCCTCCTGCCCTCAGCCTCCCCCACGTGTAGTGGGATACAGGCGCCCCGCCCACTACGCTCCGGTAATTTTTGTATTTTTTTGTAGTAGAGACGGGGGGTTTCACCGTTTTTAGCAGGGATGGGTCTCGATCTCCTGACCTCGTCTGATCGCCCGCCTCGGACTCCCAAAGTGCTGGGGATTACAGCGTGTCGAGCCACCGCGCACGGCATAA
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001128164.2(ATXN1):c.-160-39282_-160-39238del
NM_001130987.2(DYSF):c.5318-76_5318-44del
NM_001166412.2(SMOC2):c.907+15386_907+15387insTGTAATTACTACCAGCGTGGAATAAAAACACC
NM_001267550.2(TTN):c.10679-350_10679-349insCAAAGTAAGCTTAAAGTCTTACTATGCACCTTAAAGTAAGTACAAGTATACTACTGCACTTAAAGTAAGTAAAGTATTAAGTGCCACTTAAAGTAAGTACAGTATACGTACTGCCCACCTTAAAGTAAGTACAGTATACTTACTCGCCCCTTAAAGTAAGCTCCGCAGTATACTACTGCACTAAAAGTAAGTACAGTATTACTTCTGCACTAAAGTAAGTACAAGTCATACTTACTAGTACGTAAAGAAGTACAGTATACTCTGATACTTAAAGTAAGACAGCTATTAACTTACTGTACTTAAGTAAGTCCAGTATTACTTACGGTACTTAAGTAAGTACAGTCTTTTATGTTATTTGAGCGGTACTTAAGTAAGTACAGTATTATTACTGTACATTTGAGCGGTACTTAAGTAAGTACAGTATTATTACTGTA
NM_001271838.2(RSRC1):c.652+16796_652+16797insCTCTTTATATAGTCTATATCTATAATTACTATACTATATT
NM_001276.4(CHI3L1):c.258-2A>C
NM_001287491.2(TET3):c.361-13808_361-13807insTTGTGTGTTGGTCGTGTGCGCGCGCCCCCCGCTCCCGCGCGCGATGGCCCAGCGGCTGGCAAGAGGGTGTGTGT
NM_001330078.2(NRXN1):c.1753C>T (p.Arg585Trp)
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) rs2104921155
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser)
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs) rs1558507406
NM_001330078.2(NRXN1):c.504G>C (p.Lys168Asn)
NM_001330078.2(NRXN1):c.656_664dup (p.Ala219_Glu221dup) rs546508545
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001353214.3(DYM):c.764-3174_764-3107del
NM_001354404.2(PCDH15):c.-156+225495_-156+225533del
NM_001364905.1(LRBA):c.7195-22597_7195-22596insGCTGGTCGGCGGTGGCTCACGCCTGTAATCCAGCACTTTGGGGAGGCTCGAGCGGGCTGGATCAAAGGTCAGGAGATCGTGTGACCATCTTGGCTAACAACGGTTAAGCCACCGTCTCTTACAAAATACAAAAATTATCCGGGCGCGTGGCGGGCGCCTGTAGTCCCGCAGCTACTCGGGAGGCTGAGGCGGAAGAATGGCGTGAACCTGGGAGGCGTGAAGCTTGCAGTGACCGAGATGTGGTGTCGCCACTGCAATCCGGCCTGGCTAACCGAGCGGACTCCAGTCTCAAAAAAAAAAATAAAAAAAACAAAAAAAAAAAAAAGAACTTACTAA
NM_001369458.1(NFIB):c.96+33125_96+33183del
NM_001370100.5(ZMYND11):c.438+4276_438+4325del
NM_001372.4(DNAH9):c.2595+1072_2595+1392del
NM_001372044.2(SHANK3):c.1529+3_1529+4insGAGG
NM_001372044.2(SHANK3):c.1831C>T (p.Arg611Trp) rs387906933
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter) rs387906932
NM_001372044.2(SHANK3):c.3712C>T (p.Pro1238Ser)
NM_001372044.2(SHANK3):c.3865dup (p.Ala1289fs) rs2146831793
NM_001372044.2(SHANK3):c.3904del rs762292772
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs) rs2146832070
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) rs1462066038
NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
NM_001372044.2(SHANK3):c.4273dup (p.Glu1425fs)
NM_001372044.2(SHANK3):c.4910C>A (p.Ser1637Ter)
NM_001374401.1(RBPJ):c.-166-73601_-166-68683del
NM_001374828.1(ARID1B):c.2248-8118_2248-8117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGCGTTCCTCGCTCTGTCTCCCCAAGGTCGTACTGCGACTGCAGTGGCGCAATCTCGGCTCACTGCCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCGCCTCAGCTCCCGAGTAGCTGGGACTACAGGCGCCGCCACCGCGCCCGGCTAATTTTTTGTAATTTTTTAGTAGGAACGGTGTTCAGACTTGTTAGCCAGGATGGTCTCGATCTCCTGACCCATTTAGGCTCATGATCCACCCGCCTCGGCTCCGCAAGGTGCTGGTATTACAGCGTGAGCCACCGCGCCCGGGGCCCTTCATGT
NM_001378183.1(PIEZO2):c.287-33303_287-33270del
NM_001394998.1(TANC2):c.2603C>T (p.Ala868Val) rs2047545401
NM_001887.4(CRYBB1):c.575+231_575+232insAGAGCCTTACCGAGTCTTATGTCCTACTGACCTTGGAAAACGTCCGAACTGTTTCCCCCCCTCTGATTCTCGTTTGCTCGACGCACCTAGAATACAGGTGACCCGTACGGGAGGTGGGATGGAGTCTGTGTGTCCGACTGTATCCCGTTGGTGAGACGGGTTGTCCCTGAACCTGATAGGGACAAAATATACCTCAGTGATTCCCGGGTCTCTGTTGGTGTCTCCCTGTCCTTGTCCGTCACAATTCGTAACCACTAGTAATTCTCGAAGTCAATCCTTACTTGATGTTAGTTAGAACTCAAGCTTAGTACGACACGGTGAATGGTTTATCCACA
NM_001903.5(CTNNA1):c.-2-5766_-2-5573del
NM_002240.5(KCNJ6):c.947-6762_947-6761insGTTTGTTTGTGGTGTGTGTTTTTTGTTGTTGGAGACGGAGTTCTCGCTCTGTCGGCCCTAGGCCGCGACGGCGGACTGCAGTGGCGCAATCTAGTGCGCCAGCTGCAAGCTCCGCTGGCCGGGGTGCACGCACTCTATTTCTCCTGTCCTCTAGCCTGCCCGGAGTAGCTGGGAACTACAGGCGCCCGCCACTGCGCCCGGCTAATGTGTGGAGTTTTTAGTAGAGGAGGGGGGTCACCTTGTTGTGAGACAGGATATGGTGTCTGCGATCTCGGACCTCATGATACACCCGCCTAACGGCTCCAAAGTGCGGGGCTGACAGGCGTGGCCAACGCGCTTCCGGCCCGGCC
NM_002402.4(MEST):c.559C>T (p.Pro187Ser) rs863223353
NM_002576.5(PAK1):c.1551+376_1551+377insCTTCGCTTCCCCTCCAATCCTTCCCTTCCTTCCCCTCCTCCTACCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCCCCCCTCCCCTCTCCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCACCCTCCCCCCCTCCCCTCCCCTCCCCTCCCC
NM_004006.3(DMD):c.94-29188_94-29187insTTTTTTTTTTTTTCTGGGGTTTTTTTTTTTTTTTGGATG
NM_004067.4(CHN2):c.49+68970_49+69013del
NM_004067.4(CHN2):c.88+5444_88+5482del
NM_004174.4(SLC9A3):c.212-5768_212-5635del
NM_004184.4(WARS1):c.827-1253_827-1215del
NM_004562.3(PRKN):c.171+62801_171+62835del
NM_004562.3(PRKN):c.734+77606_734+77826del
NM_004711.5(SYNGR1):c.607_608insACA (p.Pro202_Thr203insAsn) rs57910921
NM_004771.4(MMP20):c.953+5103_953+5414del
NM_004984.4(KIF5A):c.130-5236_130-4967del
NM_004998.4(MYO1E):c.3081-906_3081-872del
NM_005235.3(ERBB4):c.421+36999_421+40917del
NM_005235.3(ERBB4):c.82+91828_82+91864del
NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys) rs863223350
NM_005739.4(RASGRP1):c.221-16458_221-16419del
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) rs794727869
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs) rs764338697
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
NM_005957.5(MTHFR):c.236+1G>A rs1057519359
NM_005957.5(MTHFR):c.727T>G (p.Cys243Gly)
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
NM_006047.6(RBM12):c.2377G>T (p.Gly793Ter) rs781720548
NM_006258.4(PRKG1):c.592+85868_592+85928del
NM_006567.5(FARS2):c.1218-32980_1218-32942del
NM_012301.4(MAGI2):c.301+85161_301+85162insAATCAATTAAAAAATATATATATATATAATATATACTATATATATACAATCGATATAG
NM_012309.5(SHANK2):c.4592_4593del (p.Thr1531fs) rs1565526722
NM_013243.4(SCG3):c.398-1539_398-1538insCAACTGCAACTGGCTGGTGGACTTGGAACTTTTTTTTCTCTCACTTGCCTGGAAAAGTGCAAGGCAAGAACCTGAGAAACGAGCCTGTTATGCAGACCCAAATCATCCTTGCGATGGGCTGTT
NM_014141.6(CNTNAP2):c.1348+54355_1348+54568del
NM_014141.6(CNTNAP2):c.1498+47142_1498+47201del
NM_014271.4(IL1RAPL1):c.779-114287_779-114141del
NM_014317.5(PDSS1):c.467+307_467+3456del
NM_014712.3(SETD1A):c.1272del (p.Tyr425fs) rs869312830
NM_014712.3(SETD1A):c.1938C>G (p.Tyr646Ter) rs770913157
NM_014712.3(SETD1A):c.2171dup (p.Ala725fs) rs869312832
NM_014712.3(SETD1A):c.2209C>T (p.Gln737Ter) rs869312831
NM_014712.3(SETD1A):c.518-2A>G rs869312829
NM_014762.4(DHCR24):c.876+2630_876+2682del
NM_015080.4(NRXN2):c.5038_5039del (p.Ser1680fs)
NM_015141.4(GPD1L):c.225+2463_225+2505del
NM_015158.5(KANK1):c.38-3358_38-2787del
NM_015189.3(EXOC6B):c.2197-66917_2197-66916insTAAATATATTTTAATTAAATTACATTATTAAATATCAATCAG
NM_015909.4(NBAS):c.3590+180_3590+181insTTGCTTTTTTTTTTTTTTTTTGAGTACGTGAAGTCTCGCTCTGTCCGCACAGGATGGAGTGCAGTGGCGCGATTTCTCGCTCCCTGCAAGCTGCCGACCTCCCGGGTCACGCCATCTCCTGCCTCAGCCTCCCGAGCTAGCTGGGGCTACAGGCGCCCGCTACCACGCACGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTAGCCAGGATGGTCTCGATACGCCTAGACCTCGTGATCCGCCCGCCTCGCCTCCAAAGTGCTGTGGATTACAGGCGTACCACCCGCGCACCCCCGGCCCCATCAGCTTC
NM_016373.4(WWOX):c.1056+186391AT[7]
NM_016373.4(WWOX):c.1056+95264_1056+95265insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_017635.5(KMT5B):c.-76-8323_-76-8288del
NM_017802.4(DNAAF5):c.2432-276_2432-199del
NM_017934.7(PHIP):c.4174_4175insATTTTCAGTAATTATTTTCAGTAATT (p.Ser1392delinsTyrPheGlnTer) rs2127683593
NM_018026.4(PACS1):c.2430-649_2430-648insCTTTCTTTGGTTTGTTTTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGGAAGTGCAGTGGCGGCGATCTCGGGCTCACTGCAAGCTCCGCCTCCCGGGTGTTCACGCCATTCTCCGCCTCAGCCATCCAAAGTAGAGCGGACTAAGGCGCCGCCACTACGCCCGAGCTAATTTTTTTGTATTTTTAGTTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATACTCCTGACTCGTGATCCGCCCGCCTGCCTCCCAAAGTGCTGGAGGATTTACAGCGGGCCACCGCTGCCCGGCCTAA
NM_020041.3(SLC2A9):c.682-8847_682-8846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_020806.5(GPHN):c.828+16787_828+16846del
NM_020822.3(KCNT1):c.760-365_760-232del
NM_020843.4(SCAPER):c.3311+2919_3311+2920insTTTACACTTTTACTAAATTTTAATTTAAAATTTAGTAAATTAAAATAAAATTTTACTATTTTTAATTAGGCTTGTTTTACACTTGGGTTTTTT
NM_021957.4(GYS2):c.122-3879_122-3845del
NM_021975.4(RELA):c.329T>C (p.Ile110Thr) rs863223356
NM_023004.6(RTN4R):c.1130G>A (p.Arg377Gln)
NM_024577.4(SH3TC2):c.3675+505_3675+604del
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024867.4(SPEF2):c.3064-5518_3064-5480del
NM_030948.6(PHACTR1):c.1391+978_1391+1218del
NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln) rs759748655
NM_032801.5(JAM3):c.76+25456_76+25517del
NM_033109.5(PNPT1):c.1496-3539_1496-3401del
NM_133625.6(SYN2):c.1585C>T (p.Gln529Ter)
NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu) rs781821239
NM_138735.4(NRXN1):c.49GCC[12] (p.Gly17[12]) rs750165040
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_138801.3(GALM):c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT
NM_144672.4(OTOA):c.1105-2294TTTC[6]
NM_144687.4(NLRP12):c.858C>G (p.Pro286=) rs145171629
NM_176787.5(PIGN):c.2673-514_2673-513insGCAAACCGGCCGGGCGGTGGCTGACGCCCTGTAATCCCAGCACTTTGGCAAAAGAAGGCCGAGGCGGGCGGATCACGAGGGTCAGGATATCGAGACAATTCCGGCTCTAAAACGGTGAAACCTCGTTCTATAAAAATATACCAAAACAATTAGACGGGCGTTGTGGCGGGCGCCTGTAAGTCCAGCTACCTTGGGAGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGGCGGAGCTTGCAGTCTGAGACGAGATCCCGCCACTGCACACAGCGCTGGGCGACAGAGCGCGAGACCCTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGTGT
NM_177398.4(LMX1A):c.263+5059_263+5145del
NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del) rs863223347
NM_198428.3(BBS9):c.1017-27152_1017-27053del
NM_198993.5(STAC2):c.257G>A (p.Arg86Lys) rs863223351
NM_201253.3(CRB1):c.989-2014_989-1973del
NM_207361.6(FREM2):c.6019+20342_6019+24474del
NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys) rs863223346
NM_207370.4(GPR153):c.217C>T (p.Arg73Cys) rs776061422
Single allele

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