ClinVar Miner

List of variants reported as pathogenic by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_002354.3(EPCAM):c.556-14A>G rs376155665 0.00003
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_016580.4(PCDH12):c.2515C>T (p.Arg839Ter) rs375346212 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_032634.4(PIGO):c.163C>T (p.Gln55Ter) rs1829625950 0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000344.3:c.*3+32_*3+33insSVA
NM_000516.7(GNAS):c.692G>A (p.Arg231His) rs137854538
NM_000540.3(RYR1):c.10865del (p.Lys3622fs)
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.1108G>T (p.Glu370Ter)
NM_000834.5(GRIN2B):c.1755T>G (p.Tyr585Ter)
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2171+3A>G rs1591612223
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs)
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg) rs1567855081
NM_001005273.3(CHD3):c.4024C>T (p.Arg1342Trp) rs2151615708
NM_001029896.2(WDR45):c.235G>T (p.Val79Leu)
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) rs2063238551
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs)
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001042681.2(RERE):c.2638_2644del (p.Gln880fs)
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001080517.3(SETD5):c.2807_2809delinsAA (p.Leu936fs) rs2045187265
NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs) rs1197870764
NM_001080517.3(SETD5):c.387del (p.Gly130fs)
NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs) rs2125187678
NM_001083619.3(GRIA2):c.2263dup (p.Ile755fs)
NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp)
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
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.961C>T (p.Arg321Trp) rs61751444
NM_001134407.3(GRIN2A):c.2357-40_*41del
NM_001145313.3(FSD1L):c.1411C>T (p.Gln471Ter)
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)
NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1610del (p.Asn537fs) rs1574492395
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001197104.2(KMT2A):c.3569+2T>G
NM_001197104.2(KMT2A):c.4032del (p.Val1347fs) rs1591385663
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001271.4(CHD2):c.4280del (p.Pro1427fs) rs2054297318
NM_001271.4(CHD2):c.995_999del (p.Val332fs)
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) rs2148493243
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs)
NM_001303052.2(MYT1L):c.2188del (p.His730fs) rs2048967703
NM_001303052.2(MYT1L):c.2677C>T (p.Arg893Ter)
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter) rs767384318
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter) rs957520585
NM_001349338.3(FOXP1):c.1146+1G>A rs1559650552
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_001349338.3(FOXP1):c.1653-1G>A rs1575741313
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.1601_1611del (p.Arg534fs) rs2063928899
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.497C>A (p.Ala166Asp)
NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs)
NM_001371928.1(AHDC1):c.1122del (p.Pro376fs)
NM_001371928.1(AHDC1):c.1289del (p.Pro430fs) rs1571240391
NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) rs1064797043
NM_001371928.1(AHDC1):c.808_811del (p.Glu270fs) rs2019544779
NM_001371986.1(UNC80):c.6337C>T (p.Arg2113Ter)
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.4907dup (p.Tyr1636Ter)
NM_001374353.1(GLI2):c.1905+1G>T rs1558937172
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs) rs1583280152
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter) rs2128395778
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter)
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly)
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)
NM_001378418.1(TCF20):c.5087_5088del (p.Glu1696fs) rs1920931611
NM_001385012.1(NBEA):c.1035T>G (p.Tyr345Ter) rs779780049
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs)
NM_001429.4(EP300):c.2817+186_3262-187delinsTG
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
NM_001904.4(CTNNB1):c.133del (p.Ser45fs) rs2125617589
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.1768dup (p.Ile590fs) rs1575333081
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001970.5(EIF5A):c.325C>T (p.Arg109Ter) rs2143009613
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002430.3(MN1):c.3900del (p.Trp1301fs) rs1932758693
NM_002547.2(OPHN1):c.313_326del
NM_002585.4(PBX1):c.265+2_265+5del rs773334722
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_003238.6(TGFB2):c.9del (p.Cys4fs)
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003482.4(KMT2D):c.7199del (p.Pro2400fs)
NM_003482.4(KMT2D):c.9872_9882dup (p.Met3295fs) rs2120479652
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_003900.5(SQSTM1):c.175dup (p.Arg59fs) rs1757757569
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_004859.4(CLTC):c.1873_1874del (p.Arg625fs) rs2032737696
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) rs2032738350
NM_005120.3(MED12):c.1836_1842dup (p.Thr615fs)
NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005612.5(REST):c.2809A>T (p.Lys937Ter)
NM_005629.4(SLC6A8):c.1142-2A>C rs1603217176
NM_005859.5(PURA):c.534_556dup (p.Gln186fs) rs1763049807
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) rs121434226
NM_006236.3(POU3F3):c.1084C>A (p.Arg362Ser) rs2104341046
NM_006236.3(POU3F3):c.196dup (p.Asp66fs)
NM_006236.3(POU3F3):c.209_213delinsC (p.Val70fs)
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_012330.4(KAT6B):c.3223G>T (p.Glu1075Ter)
NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter) rs1597435896
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_014423.4(AFF4):c.758C>T (p.Pro253Leu)
NM_015001.3(SPEN):c.4345G>T (p.Glu1449Ter) rs2148739431
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs) rs2095982231
NM_015338.6(ASXL1):c.3583dup (p.Gln1195fs) rs2011867276
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)
NM_015570.4(AUTS2):c.796_818del (p.Pro266fs)
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
NM_016628.5(WAC):c.29_30del (p.Arg10fs) rs754451905
NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)
NM_018149.7(SMG8):c.971dup (p.Asn324fs)
NM_018486.3(HDAC8):c.562G>A (p.Ala188Thr) rs1603069440
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_019023.5(PRMT7):c.148C>T (p.Gln50Ter) rs2082897416
NM_019066.5(MAGEL2):c.2036del (p.Thr679fs)
NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter) rs1968559161
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020706.2(SCAF4):c.790del (p.Arg264fs) rs2123557653
NM_020791.4(TAOK1):c.1823del (p.Arg608fs) rs2153030392
NM_022786.3(ARV1):c.175-3_175-2inv
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs)
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.3462-1G>A rs1955068468
NM_030632.3(ASXL3):c.1628_1629del (p.Leu543fs)
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)
NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter)
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078629.4(MSL3):c.1171+1G>A rs2053176048
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs)
NM_138927.4(SON):c.4198_4201del (p.Pro1400fs) rs2145832543
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
NM_170675.5(MEIS2):c.751C>T (p.Gln251Ter) rs2141917789
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491

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