ClinVar Miner

List of variants reported as likely pathogenic by Centogene AG - the Rare Disease Company

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 331
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_000311.5(PRNP):c.635A>C (p.Gln212Pro) rs751882709 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00002
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002
NM_016006.6(ABHD5):c.730dup (p.Thr244fs) rs754573124 0.00002
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_000237.3(LPL):c.1139+1G>A rs767260655 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter) rs769501930 0.00001
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter) rs778698443 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_005076.5(CNTN2):c.1241-1G>C rs1553345874 0.00001
NM_005186.4(CAPN1):c.1015C>T (p.Arg339Ter) rs1033887530 0.00001
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val) rs202247806 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter) rs376075583 0.00001
NM_015909.4(NBAS):c.513+2T>C rs1663675984 0.00001
NM_017799.4(TMEM260):c.1688del (p.Thr563fs) rs1888745759 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter) rs765720584 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NC_000007.14:g.80649748_80727446del
NC_000014.9:g.105855132dup rs2092930640
NC_000017.11:g.42910915_42911427del rs2056090806
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs) rs2082302853
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala) rs2115931844
NM_000091.5(COL4A3):c.305del (p.Ser102fs) rs2069242131
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.657+2dup rs2150877933
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000117.3(EMD):c.82+1G>A rs1557182214
NM_000124.4(ERCC6):c.543+1G>T rs1837448977
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) rs1639470403
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer) rs2056021430
NM_000179.3(MSH6):c.1639del (p.Glu547fs) rs1572723786
NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter) rs1553413355
NM_000214.3(JAG1):c.2278del (p.Val760fs) rs2067297301
NM_000222.3(KIT):c.2244_2253del (p.Ile748fs) rs2109794937
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) rs2070032216
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs) rs2083718945
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)
NM_000256.3(MYBPC3):c.1927+1G>T rs2142859053
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly) rs1555633697
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
NM_000271.5(NPC1):c.2795+56C>T rs2058685029
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter) rs772912966
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000311.5(PRNP):c.392G>A (p.Gly131Glu) rs74315410
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.3_27del (p.Met1fs) rs2132145338
NM_000314.8(PTEN):c.529T>C (p.Tyr177His) rs1860418425
NM_000314.8(PTEN):c.898del (p.Ile300fs) rs2132282499
NM_000314.8(PTEN):c.966_996del (p.Asn323fs) rs2132283188
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000352.6(ABCC8):c.526dup (p.Val176fs) rs1847952281
NM_000387.6(SLC25A20):c.105+1G>T rs970037429
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000436.4(OXCT1):c.1339-2A>G rs1743668356
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala) rs1164911383
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs) rs2114278703
NM_000494.4(COL17A1):c.3539dup (p.Gly1181fs) rs2086266709
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000546.6(TP53):c.376-11_377del rs2151034180
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln) rs397514668
NM_000558.5(HBA1):c.95+2_95+6del rs1181505507
NM_000642.3(AGL):c.2399dup (p.Asp801fs) rs1652268068
NM_000642.3(AGL):c.567dup (p.Arg190Ter) rs1650334882
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) rs2153231721
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg) rs867553974
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu) rs1970945661
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val) rs901526282
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs) rs2125515297
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) rs2080116462
NM_001009944.3(PKD1):c.7065+1G>A rs2151783532
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn) rs1699364791
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs) rs1597716817
NM_001079537.2(TRAPPC6B):c.149+2T>A rs758863393
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110354.2(ZP3):c.157dup (p.Val53fs) rs2115882062
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) rs2065988707
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) rs2059190701
NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter) rs1723938282
NM_001163435.3(TBCK):c.1170+1G>A rs765407874
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter) rs1673549822
NM_001197104.2(KMT2A):c.2354_2402dup (p.His801delinsGlnSerSerCysHisTer) rs1949980614
NM_001220.5(CAMK2B):c.696+1G>A rs780130215
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del) rs2092817019
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr) rs2056558371
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs) rs2147897090
NM_001267550.2(TTN):c.13115del (p.Val4372fs) rs2154317965
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter) rs2154304590
NM_001267550.2(TTN):c.2224del (p.Ser742fs) rs2093148818
NM_001282225.2(ADA2):c.-46-108_542+142del
NM_001292034.3(TAB2):c.1526del (p.Pro509fs) rs1781533816
NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs) rs2148852029
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) rs754897911
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001349338.3(FOXP1):c.1103dup (p.His368fs) rs2040036225
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter) rs2052539418
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.863del (p.His288fs) rs2149489382
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys) rs759929653
NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs) rs2145442806
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.915+1G>A rs2147368049
NM_001370100.5(ZMYND11):c.1028G>A (p.Trp343Ter) rs2131925813
NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)
NM_001371986.1(UNC80):c.1063del (p.Tyr355fs) rs1553523425
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_001378183.1(PIEZO2):c.8555C>T (p.Ser2852Leu) rs2033776473
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter) rs1951349487
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs) rs1064793575
NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr) rs2102897778
NM_001379451.1(BCORL1):c.1562_1563del (p.Leu521fs)
NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter) rs2141084327
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer) rs2059050708
NM_001429.4(EP300):c.3733del (p.Val1245fs)
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile) rs2143779081
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter) rs2055884613
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) rs1939412490
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser) rs2139165584
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001904.4(CTNNB1):c.242-5T>G rs2125619523
NM_001943.5(DSG2):c.45+1G>C rs1568098570
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs) rs2045366127
NM_002317.7(LOX):c.1009C>T (p.Arg337Ter) rs1754538399
NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter) rs747738988
NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter) rs987919056
NM_002397.5(MEF2C):c.402+184del rs2152669802
NM_002585.4(PBX1):c.836A>G (p.Gln279Arg) rs1669421181
NM_002609.4(PDGFRB):c.1025C>T (p.Ala342Val) rs2113907045
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) rs2122976509
NM_002772.3(TMPRSS15):c.2294del (p.Leu765fs) rs748851550
NM_002772.3(TMPRSS15):c.2325del (p.Lys775fs) rs749950017
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002890.3(RASA1):c.1201del (p.Ile401fs) rs2112421707
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu) rs1665662335
NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp) rs1589797083
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003482.4(KMT2D):c.4138T>C (p.Cys1380Arg) rs2120621227
NM_003560.4(PLA2G6):c.1742+2T>G rs2087478227
NM_003590.5(CUL3):c.1358dup (p.Asn453fs) rs1366667901
NM_003722.5(TP63):c.858dup (p.Leu287fs) rs2108801923
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2178+2T>C rs1693198121
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly) rs764581483
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004046.6(ATP5F1A):c.1176+1G>C rs1131691396
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter) rs2109022762
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs) rs746646126
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter) rs1555939456
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_005045.4(RELN):c.9444-1G>A rs1828624396
NM_005199.5(CHRNG):c.351-9T>C rs764382582
NM_005431.2(XRCC2):c.350dup (p.Leu117fs) rs764640893
NM_005629.4(SLC6A8):c.1255-35_1272del rs2091473708
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs) rs768053349
NM_005859.5(PURA):c.-12_25del (p.Met1fs) rs1763033823
NM_005859.5(PURA):c.824C>A (p.Ser275Ter) rs2126749442
NM_005861.4(STUB1):c.807dup (p.Val270fs) rs2151507049
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg) rs2107905472
NM_006302.3(MOGS):c.1422G>A (p.Trp474Ter) rs1671940053
NM_006509.4(RELB):c.919C>T (p.Arg307Ter) rs1971589003
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del) rs2142822830
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) rs998489108
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) rs2041157497
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser) rs1783105291
NM_006984.5(CLDN10):c.653del (p.Pro218fs) rs2043960821
NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe) rs2131298649
NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs) rs2134159675
NM_012330.4(KAT6B):c.3022-5C>G rs2134165271
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter) rs756955033
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter) rs2151761457
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter) rs1176180722
NM_014141.6(CNTNAP2):c.5_8dup (p.Ala4fs) rs1797490749
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014727.3(KMT2B):c.1205del (p.Pro402fs) rs1969146161
NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs) rs1703278635
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014845.6(FIG4):c.2376+2T>G rs756308787
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter) rs2131463657
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) rs2137278830
NM_015629.4(PRPF31):c.267del (p.Glu89fs) rs2146409568
NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter) rs770201721
NM_015910.7(WDPCP):c.253+2T>C rs1700584499
NM_015915.5(ATL1):c.574C>T (p.Leu192Phe) rs2039208042
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) rs1642221044
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter) rs749597091
NM_016356.5(DCDC2):c.923-283_1023+141del rs1761673797
NM_016648.4(LARP7):c.427del (p.Arg143fs) rs1560929898
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs) rs1574084195
NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe) rs2153052371
NM_017780.4(CHD7):c.7320del (p.Val2441fs) rs2129649243
NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter) rs1582100341
NM_018010.4(IFT57):c.585+3A>G rs1560127636
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs) rs2147349682
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro) rs2039524843
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) rs1596194950
NM_019096.5(GTPBP2):c.1236+1G>A rs1252019134
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs) rs1768790302
NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro) rs1944560174
NM_020451.3(SELENON):c.872+1G>A rs2047936719
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter) rs1664428695
NM_020774.4(MIB1):c.2039del (p.Gln680fs) rs757527279
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs) rs1689584119
NM_021008.4(DEAF1):c.997+2_997+3del rs1860334710
NM_021076.4(NEFH):c.406C>T (p.Gln136Ter) rs1359968264
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu) rs2137997888
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter) rs2100785804
NM_022167.4(XYLT2):c.1552del (p.Leu518fs) rs1912543391
NM_022370.4(ROBO3):c.3412del (p.Arg1138fs) rs1946470902
NM_022370.4(ROBO3):c.767-1G>A rs1946261580
NM_022725.4(FANCF):c.817_820del (p.Val273fs) rs1858619779
NM_023110.3(FGFR1):c.2044G>A (p.Asp682Asn) rs2150548677
NM_024312.5(GNPTAB):c.2915+4_2915+9del rs1952994888
NM_024757.5(EHMT1):c.21+1_21+5del rs1842769868
NM_025137.4(SPG11):c.1877del (p.Phe626fs) rs2083989142
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter) rs2082843264
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs) rs2082401685
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) rs1271884981
NM_030632.3(ASXL3):c.3592_3593insGAT (p.Leu1198Ter) rs2067703001
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs) rs753229591
NM_031443.4(CCM2):c.472+1G>C rs745710633
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs) rs1766797963
NM_033380.3(COL4A5):c.3106+1G>A rs2147872358
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg) rs104886237
NM_033380.3(COL4A5):c.3554-2A>G rs2147956337
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter) rs2067217104
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_052867.4(NALCN):c.883del (p.Arg295fs) rs2043584001
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser) rs121908410
NM_080680.3(COL11A2):c.2690del (p.Pro897fs) rs2150555528
NM_138459.5(NUS1):c.692-2A>G rs2114693876
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter) rs2065136111
NM_139284.3(LGI4):c.263_265del (p.Phe88del) rs2065190797
NM_152263.4(TPM3):c.377+863_775+422del
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter) rs1565019928
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_181078.3(IL21R):c.352+1G>C rs2087297703
NM_181789.4(GLDN):c.1028-2A>T rs2038250738
NM_182641.4(BPTF):c.1132C>T (p.Arg378Ter) rs2144998926
NM_183075.3(CYP2U1):c.311_336dup (p.Val113delinsArgCysSerTrpLeuThrTer) rs1733002976
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His) rs1894614852
NM_207122.2(EXT2):c.939+2T>C rs2135015771
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs) rs974496530

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