ClinVar Miner

List of variants reported as pathogenic by Génétique des Maladies du Développement, Hospices Civils de Lyon

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ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) rs761886575 0.00003
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=) rs1447282271 0.00002
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter) rs2056099559 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs) rs779516131 0.00001
NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]
NC_000016.10:g.(?_29813054)_(29813955_?)del
NC_000016.9:g.(9923509_9927662)_(9928452_9934503)dup
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu) rs1688528616
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000382.3(ALDH3A2):c.1003C>T (p.Pro335Ser)
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.215_216del (p.His72fs) rs2145290706
NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter) rs1558010146
NM_000702.4(ATP1A2):c.295_296dup (p.Ile100fs) rs1558003446
NM_000807.4(GABRA2):c.855del (p.Phe285fs) rs2109626303
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000844.4(GRM7):c.1180G>A (p.Glu394Lys) rs1697820592
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met) rs2070561031
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) rs1553925558
NM_001003694.2(BRPF1):c.567del (p.Asp190fs) rs1057519516
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs) rs2080113065
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs) rs2080111520
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter) rs1181632862
NM_001008537.3(NEXMIF):c.643G>T (p.Gly215Ter) rs2147441502
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.81_82del (p.Gly28fs)
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001031689.3(PLAA):c.120C>G (p.Asp40Glu) rs1587205406
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter) rs942940725
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs) rs2132275633
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4343_4346dup (p.Met1449fs)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4954G>C (p.Ala1652Pro)
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2:c.(2388+1_2389-1)_(3849+1_3850-1)
NM_001040716.2(PC):c.1408C>T (p.Gln470Ter)
NM_001080517.3(SETD5):c.2388_2389del (p.Ser797fs) rs1559451052
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001083962.2(TCF4):c.1459_1462dup (p.Asn488fs)
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.5796del (p.Asp1931_Tyr1932insTer) rs2067639563
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1111_1214del (p.Ser371fs)
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001111125.3(IQSEC2):c.2819_2823dup (p.Arg942fs) rs2074254630
NM_001111125.3(IQSEC2):c.3278C>G (p.Ser1093Trp)
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) rs1561584736
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) rs2043685576
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2169-1G>C rs2141231277
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) rs1903138230
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) rs2050242587
NM_001160148.2(DDHD1):c.1637_1638dup (p.Met547Ter) rs2139870889
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs) rs1697667767
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1807_1808del (p.Ser603fs) rs2105843552
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2295del (p.Met766fs)
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2589+1G>T rs1057517849
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs) rs1696660743
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr)
NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs) rs886039529
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) rs61741123
NM_001165963.4(SCN1A):c.3526G>T (p.Glu1176Ter) rs1553534041
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val) rs2105476084
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly) rs1573953030
NM_001165963.4(SCN1A):c.5148C>A (p.Cys1716Ter) rs773545020
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter) rs1553520103
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.602+1G>A
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001184880.2(PCDH19):c.1081_1094del (p.Ser361fs) rs1928409516
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.139C>T (p.Arg47Ter)
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) rs1928217668
NM_001184880.2(PCDH19):c.2675+2dup rs1926541478
NM_001184880.2(PCDH19):c.3070_3073dup (p.His1025fs) rs1924619294
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001195553.2(DCX):c.226C>G (p.Arg76Gly) rs587783534
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001242896.3(DEPDC5):c.1000_1009del (p.Val334fs)
NM_001242896.3(DEPDC5):c.1143+2T>C
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2631dup (p.Lys878fs)
NM_001242896.3(DEPDC5):c.279+1G>C rs886039246
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs) rs2092986219
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter) rs2149449539
NM_001242896.3(DEPDC5):c.656_657dup (p.Leu220fs)
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001256214.2:c.(2727+1_2728-1)(2858+1_2859-1)
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) rs1246923304
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
NM_001278116.2(L1CAM):c.2872+1G>C rs2148493825
NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs)
NM_001282531.3(ADNP):c.1936_1937del (p.Arg646fs)
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)
NM_001291415.2(KDM6A):c.749-2A>G rs2043958892
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) rs1602286005
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.2094del (p.Glu699fs) rs1926473501
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001347721.2(DYRK1A):c.1270G>T (p.Gly424Ter) rs1555990805
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) rs1555980234
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) rs2154270715
NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter)
NM_001353345.2(SETD1B):c.1371dup (p.Asp458fs) rs2137552415
NM_001353345.2(SETD1B):c.2258_2264del (p.Leu752_Phe753insTer) rs1876191880
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.865-2A>G
NM_001365902.3(NFIX):c.1249G>T (p.Gly417Ter) rs1326313565
NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367873.1(SOX6):c.878dup (p.Gly294fs) rs1849236698
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001372044.2(SHANK3):c.3777G>A (p.Glu1259=) rs763158627
NM_001372044.2(SHANK3):c.5011_5012del (p.Gly1671fs) rs1385882031
NM_001372044.2(SHANK3):c.5209C>T (p.Gln1737Ter) rs1294272918
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.4101_4102del (p.Ser1367fs)
NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs) rs2105124073
NM_001378418.1(TCF20):c.3760dup (p.Arg1254fs) rs1569146649
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp) rs782108464
NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs) rs1973345860
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly) rs797044870
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) rs1569231897
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002516.4(NOVA2):c.729del (p.Ala244fs) rs2146406775
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1500G>A (p.Trp500Ter) rs1698023156
NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter) rs2124905063
NM_003401.5(XRCC4):c.127T>A (p.Trp43Arg) rs587779351
NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter) rs1565763192
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer) rs1565822457
NM_003718.5(CDK13):c.2141G>A (p.Gly714Asp)
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
NM_004247.4(EFTUD2):c.342T>G (p.Tyr114Ter)
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_005629.4(SLC6A8):c.1394_1399del (p.Gly465_Met467delinsVal) rs2148364156
NM_005859.5(PURA):c.10C>T (p.Arg4Ter) rs1561792945
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs) rs2124447951
NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs) rs2124445519
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006623.4(PHGDH):c.765del (p.Ala257fs)
NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs) rs1562505675
NM_006766.5(KAT6A):c.907+1del rs1564038389
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter) rs1554121245
NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs)
NM_006772.3(SYNGAP1):c.1492_1493del (p.Met498fs)
NM_006772.3(SYNGAP1):c.1532-3C>G
NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs)
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs)
NM_006772.3(SYNGAP1):c.387+1G>A rs1777175608
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.539dup (p.His181fs) rs1561783309
NM_006772.3(SYNGAP1):c.67+1G>T
NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs)
NM_006940.6(SOX5):c.433dup (p.Thr145fs) rs2136046122
NM_006950.3(SYN1):c.122del (p.Gly41fs) rs2147933505
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_007327.4(GRIN1):c.1933G>T (p.Ala645Ser) rs1833621434
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs)
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.89dup (p.Thr31fs) rs2115589275
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs)
NM_013436.5(NCKAP1):c.3240_3241del (p.Asn1080fs) rs1696658542
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014271.4(IL1RAPL1):c.1191_1201+6del
NM_014727.3(KMT2B):c.424C>T (p.Arg142Ter) rs748888652
NM_014813.3(LRIG2):c.804-2A>C
NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter) rs2147123782
NM_015021.3(ZNF292):c.6145dup (p.Ser2049fs) rs764995318
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter)
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_015443.4(KANSL1):c.2938_2939del (p.Leu980fs) rs1568366050
NM_015443.4(KANSL1):c.449del (p.Pro150fs) rs1567764119
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_016302.4(CRBN):c.129dup (p.Pro44fs) rs1707782133
NM_016529.6(ATP8A2):c.3183+1G>A rs1952385477
NM_016628.5(WAC):c.405G>A (p.Trp135Ter) rs1839996657
NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter) rs779058908
NM_017635.5(KMT5B):c.2393dup (p.Asn798fs) rs2153039995
NM_017635.5(KMT5B):c.609C>A (p.Tyr203Ter) rs2153054646
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.7123del (p.Ser2375fs)
NM_017934.7(PHIP):c.4174_4175insATTTTCAGTAATTATTTTCAGTAATT (p.Ser1392delinsTyrPheGlnTer) rs2127683593
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_020312.4(COQ9):c.73G>A (p.Val25Met) rs2030153941
NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter)
NM_020699.4(GATAD2B):c.1417C>T (p.Gln473Ter) rs1674353634
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs) rs1579576029
NM_022101.4(STEEP1):c.598C>T (p.Gln200Ter) rs1188300105
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022893.4(BCL11A):c.1633del (p.Asp545fs)
NM_024757.5(EHMT1):c.1495del (p.Ala499fs)
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_031407.7(HUWE1):c.12408C>G (p.Ile4136Met)
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer)
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) rs2102986721
NM_031844.3(HNRNPU):c.728del (p.Lys243fs)
NM_032229.3(SLITRK6):c.3G>C (p.Met1Ile)
NM_032436.4(CHAMP1):c.1559_1560del (p.Ser520fs) rs2087233948
NM_033517.1(SHANK3):c.3637dup (p.His1213fs) rs1555910162
NM_052874.5(STX1B):c.286G>T (p.Glu96Ter) rs2143671037
NM_052874.5(STX1B):c.382del (p.Glu128fs)
NM_130839.5(UBE3A):c.1309C>T (p.Arg437Ter)
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_138576.4(BCL11B):c.682C>T (p.Gln228Ter) rs1886522103
NM_138927.4(SON):c.3334del (p.Arg1112fs) rs2145828175
NM_138927.4(SON):c.5533delinsACG (p.Ser1845fs) rs2085921116
NM_138927.4(SON):c.6920G>A (p.Gly2307Glu) rs1601299278
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs) rs2145972429
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr)
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter) rs2138162523
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs) rs2079959227
NM_172107.4(KCNQ2):c.232C>T (p.Gln78Ter) rs867848081
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.507_514+10del rs2081377258
NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr) rs1600785769
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg) rs1057518500
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4:c.(296+1_297-1)_(514+1_515-1)del
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_203475.3(PORCN):c.374-2A>G rs2147123496
NM_203475.3(PORCN):c.626G>C (p.Cys209Ser)
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs) rs1659881415
Single allele

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