ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
Download table as spreadsheet
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.3904dup (p.Ala1302fs) rs762292772
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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.