ClinVar Miner

List of variants reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) rs759727960 0.00004
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_000161.3(GCH1):c.662T>C (p.Met221Thr) rs104894434 0.00002
NM_001372179.1(PABPC1L):c.1037C>T (p.Ala346Val) rs750947314 0.00002
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter) rs777220438 0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_152467.5(KLHL10):c.985C>T (p.Arg329Cys) rs782565913 0.00001
NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser) rs782575307 0.00001
NC_000023.10:g.(?_147030199)_(147046357_?)del
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000834.5(GRIN2B):c.1251dup (p.Ile418fs) rs1191352284
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys) rs387906636
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs) rs886041090
NM_001003694.2(BRPF1):c.3020_3021del (p.Asp1006_Ser1007insTer) rs2077100499
NM_001008537.3(NEXMIF):c.1426C>T (p.Gln476Ter) rs2080113099
NM_001008537.3(NEXMIF):c.2725del (p.Ala909fs) rs2080105463
NM_001017975.6(HFM1):c.1905T>A (p.Tyr635Ter) rs751622198
NM_001029896.2(WDR45):c.292G>T (p.Glu98Ter) rs781998959
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.3798del (p.Gln1267fs) rs1700956378
NM_001040142.2(SCN2A):c.5046_5048delinsGG (p.Phe1682fs) rs1702012175
NM_001042492.3(NF1):c.889-6_893del rs2066505220
NM_001069.3(TUBB2A):c.1070C>T (p.Pro357Leu) rs2113785083
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001079872.2(CUL4B):c.757_758del (p.Gln253fs) rs878853152
NM_001080517.3(SETD5):c.648del (p.Gln216fs) rs2041147607
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) rs281875332
NM_001110556.2(FLNA):c.5536del (p.Tyr1846fs) rs2148106461
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.[1076_1102del;1124_1142del]
NM_001111125.3(IQSEC2):c.1405_1406del (p.Lys469fs) rs2074385548
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.3097C>T (p.Gln1033Ter) rs878853144
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001163435.3(TBCK):c.721G>T (p.Glu241Ter) rs577030895
NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]
NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs) rs2105866757
NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter) rs2105852267
NM_001165963.4(SCN1A):c.2226del (p.Asn743fs) rs2105829160
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile) rs1085307484
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001170629.2(CHD8):c.2811del (p.Arg938fs) rs1888277300
NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter) rs1888108039
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys) rs1574511051
NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn) rs1687957552
NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs) rs1687515795
NM_001172509.2(SATB2):c.1727del (p.Pro576fs) rs1687511465
NM_001172509.2(SATB2):c.1762C>T (p.Gln588Ter) rs1692195674
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001195553.2(DCX):c.781del (p.Gln261fs) rs2147635268
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs) rs1949956477
NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs) rs1950141561
NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs) rs1949946887
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter) rs1950540436
NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs) rs1950567837
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001271.4(CHD2):c.1044del (p.Lys349fs) rs2053407118
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.4349del (p.Gly1450fs) rs2141876542
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter) rs372786805
NM_001282531.3(ADNP):c.1184dup (p.Ser396fs) rs1981038382
NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs) rs1981021559
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.67_70del (p.Leu23fs) rs1982228705
NM_001303052.2(MYT1L):c.1533del (p.Cys511fs) rs2052981382
NM_001303052.2(MYT1L):c.1579C>T (p.Leu527=) rs2052975031
NM_001303052.2(MYT1L):c.2423_2424del (p.Cys808fs) rs2048544264
NM_001303052.2(MYT1L):c.2671A>G (p.Ser891Gly) rs2048197122
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001347721.2(DYRK1A):c.1006del (p.Trp336fs) rs2148619667
NM_001347721.2(DYRK1A):c.1173del (p.Asp391fs) rs2053265002
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) rs724159956
NM_001347721.2(DYRK1A):c.1243del (p.His415fs) rs2148649530
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln) rs797045041
NM_001347721.2(DYRK1A):c.1951del (p.Ser651fs) rs2148662758
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001347721.2(DYRK1A):c.301-1G>T rs2052604910
NM_001347721.2(DYRK1A):c.450del (p.Arg149_Tyr150insTer) rs2148582538
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp) rs1064796406
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs) rs724159950
NM_001347721.2(DYRK1A):c.638-2A>G rs1057518474
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.755del (p.Leu252fs) rs2053040180
NM_001347721.2(DYRK1A):c.909T>A (p.Cys303Ter) rs1555984429
NM_001347721.2(DYRK1A):c.924+1G>C rs2148613196
NM_001347721.2(DYRK1A):c.977del (p.Gly326fs) rs2148619520
NM_001348323.3(TRIP12):c.1336G>T (p.Glu446Ter) rs2053141794
NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys) rs1576280892
NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro) rs1576220938
NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg) rs1576220405
NM_001349338.3(FOXP1):c.1350A>T (p.Ala450=) rs2037865324
NM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter) rs2107310122
NM_001356.5(DDX3X):c.103+2T>C rs2063787817
NM_001356.5(DDX3X):c.1195_1199dup (p.Tyr400Ter) rs2063910640
NM_001356.5(DDX3X):c.1398_1401del (p.Ala467fs) rs2063922977
NM_001356.5(DDX3X):c.1537_1541del (p.Val513fs) rs2063927827
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter) rs1555950676
NM_001356.5(DDX3X):c.765+1G>A rs2063885834
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001356.5(DDX3X):c.968_972dup (p.Gly325fs) rs2063893070
NM_001371928.1(AHDC1):c.3384C>A (p.Tyr1128Ter) rs2019335082
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs) rs1555910048
NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs) rs2083278122
NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs) rs2083280269
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter) rs387906932
NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs) rs2083283892
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs) rs886041238
NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs) rs2083292400
NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs) rs2083293616
NM_001374828.1(ARID1B):c.1693del (p.Gln565fs) rs1779015991
NM_001374828.1(ARID1B):c.2051_2052insAA (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2496del (p.Gln833fs) rs1786823829
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.4990C>T (p.Gln1664Ter) rs1554235882
NM_001374828.1(ARID1B):c.5394+1G>C rs1057518984
NM_001374828.1(ARID1B):c.6823del (p.Gln2275fs) rs1794563443
NM_001376.5(DYNC1H1):c.6074G>A (p.Arg2025Gln) rs2152577516
NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs) rs1680708290
NM_001378120.1(MBD5):c.4648del (p.Gln1550fs) rs1681481862
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter) rs1553518509
NM_001379110.1(SLC9A6):c.370-9_370-5del rs796053290
NM_001379403.1(WDR26):c.1944+1G>C rs1673322799
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.4484T>A (p.Leu1495Ter) rs2059176668
NM_001845.6(COL4A1):c.359dup (p.Gly121fs) rs1566378788
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.555del (p.Arg185fs) rs2078151677
NM_001904.4(CTNNB1):c.942del (p.Ile315fs) rs2078196892
NM_002024.6(FMR1):c.420-8A>G rs886041088
NM_002024.6(FMR1):c.990+1G>A rs886041089
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser) rs1646670170
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002397.5(MEF2C):c.810+1G>A rs1761749684
NM_002516.4(NOVA2):c.782del (p.Val261fs) rs1600596180
NM_002547.3(OPHN1):c.1045C>T (p.Gln349Ter) rs2147462360
NM_003042.4(SLC6A1):c.1600C>T (p.Gln534Ter) rs1698067880
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs) rs1942891632
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) rs1452715535
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003896.4(ST3GAL5):c.1255T>C (p.Ter419Arg) rs1681835024
NM_004187.5(KDM5C):c.1296dup (p.Glu433Ter) rs878853151
NM_004187.5(KDM5C):c.1464C>A (p.Cys488Ter) rs2073534632
NM_004187.5(KDM5C):c.2152G>C (p.Ala718Pro) rs878853141
NM_004187.5(KDM5C):c.2381_2382del (p.Leu794fs) rs2073044253
NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter) rs2141496166
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004519.4(KCNQ3):c.509A>G (p.Glu170Gly) rs777833596
NM_004519.4(KCNQ3):c.688C>A (p.Arg230Ser) rs796052676
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004722.4(AP4M1):c.974+2dup rs1437308674
NM_004975.4(KCNB1):c.1106G>A (p.Trp369Ter) rs1984252016
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter) rs1601071971
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005629.4(SLC6A8):c.1429_1430del (p.Ser477fs) rs2091475771
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005859.5(PURA):c.677_678del (p.Val226fs) rs1064796830
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) rs1057521924
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) rs121913287
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs) rs1553511175
NM_006593.4(TBR1):c.713_719del (p.Ser238fs) rs1553510280
NM_006766.5(KAT6A):c.1569C>A (p.Tyr523Ter) rs1822870462
NM_006766.5(KAT6A):c.1786_1787del (p.Leu596fs) rs1822472679
NM_006766.5(KAT6A):c.3703G>T (p.Glu1235Ter) rs1821749145
NM_006766.5(KAT6A):c.4069C>T (p.Gln1357Ter) rs1821721453
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007315.4(STAT1):c.884C>A (p.Thr295Lys) rs2125062092
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg) rs587777361
NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg) rs878853143
NM_012280.4(FTSJ1):c.362-2A>T rs2061565957
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter) rs1554843977
NM_012330.4(KAT6B):c.466dup (p.Ala156fs) rs1841873265
NM_012330.4(KAT6B):c.5831_5832del (p.Tyr1944fs) rs1846247159
NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter) rs1411134954
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2904del (p.Glu969fs) rs2034440990
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) rs1064793539
NM_013275.6(ANKRD11):c.4067del (p.Ser1356fs) rs2034340511
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) rs2033996047
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7189C>T (p.Gln2397Ter) rs2033955113
NM_013275.6(ANKRD11):c.998del (p.Asn333fs) rs2034590529
NM_014271.4(IL1RAPL1):c.894_903del (p.Trp299fs) rs878853146
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014927.5(CNKSR2):c.1977-1G>A rs2092480152
NM_015100.4(POGZ):c.1079-20A>G rs1657541606
NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter) rs142133690
NM_015100.4(POGZ):c.2345del (p.Cys782fs) rs1654011638
NM_015107.3(PHF8):c.1141+5G>C rs878853148
NM_015215.4(CAMTA1):c.511-1G>A rs2095751954
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter) rs1870211191
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs) rs1879042937
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter) rs1877697992
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) rs1872666696
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter) rs1427624649
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter) rs2041984041
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs) rs2046278091
NM_015512.5(DNAH1):c.6131del (p.Phe2044fs) rs1703258379
NM_015559.3(SETBP1):c.2406_2407delinsT (p.Leu802fs) rs2071357855
NM_018486.3(HDAC8):c.352_358del (p.Ala118fs) rs2051864063
NM_020699.4(GATAD2B):c.115dup (p.Ala39fs) rs1674950708
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_021120.4(DLG3):c.1761dup (p.Glu588Ter) rs2087377266
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_024757.5(EHMT1):c.1543_1555del (p.Gln515fs) rs1949924324
NM_024757.5(EHMT1):c.2649C>A (p.Tyr883Ter) rs1953425077
NM_024757.5(EHMT1):c.3455_3458del (p.Val1152fs) rs1955015534
NM_024757.5(EHMT1):c.380T>G (p.Leu127Ter) rs1945375812
NM_025145.7(CFAP43):c.3541-2A>C rs1554862953
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) rs1599573656
NM_030665.4(RAI1):c.2332_2336del (p.Gly778fs) rs878853142
NM_030665.4(RAI1):c.4455_4456del (p.Ala1487fs) rs2032302357
NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs) rs2032102818
NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer) rs1680653195
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter) rs997044541
NM_138927.4(SON):c.4779_4780del (p.Ser1594fs) rs2085890366
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg) rs118192217
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300
NM_201525.4(ADGRG1):c.619_620+2del rs2148320944

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