ClinVar Miner

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

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ClinVar version:
Total variants: 264
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HGVS dbSNP gnomAD frequency
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu) rs150801382 0.00221
NM_006180.6(NTRK2):c.2374C>T (p.Arg792Cys) rs201902834 0.00004
NM_016032.4(ZDHHC9):c.881+3G>A rs775743190 0.00004
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_006015.6(ARID1A):c.500C>T (p.Ala167Val) rs1327610437 0.00003
NM_006268.5(DPF2):c.23T>C (p.Val8Ala) rs148550551 0.00002
NM_001042681.2(RERE):c.1727G>A (p.Arg576Gln) rs375547664 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr) rs1006465697 0.00001
NM_001375524.1(TRRAP):c.4079C>T (p.Pro1360Leu) rs139426093 0.00001
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu) rs1170509653 0.00001
NM_014712.3(SETD1A):c.754A>G (p.Ser252Gly) rs550183612 0.00001
NM_015001.3(SPEN):c.92G>A (p.Arg31His) rs1460194680 0.00001
NM_017780.4(CHD7):c.6070C>G (p.Arg2024Gly) rs1360515765 0.00001
NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr) rs2063114288
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser)
NM_000719.7(CACNA1C):c.1529A>G (p.Asn510Ser) rs2050947096
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)
NM_000815.5(GABRD):c.370A>G (p.Thr124Ala)
NM_000827.4(GRIA1):c.1444G>T (p.Val482Phe)
NM_000829.4(GRIA4):c.83A>C (p.Gln28Pro)
NM_000834.5(GRIN2B):c.2431A>T (p.Ser811Cys)
NM_000836.4(GRIN2D):c.2599C>T (p.His867Tyr)
NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)
NM_000944.5(PPP3CA):c.1544G>A (p.Ser515Asn) rs2110200440
NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)
NM_001005273.3(CHD3):c.3894G>A (p.Lys1298=)
NM_001033561.2(PHF12):c.2660C>G (p.Ala887Gly) rs2152654596
NM_001039469.3(MARK2):c.404-1G>A rs2135335880
NM_001040142.2(SCN2A):c.2103G>T (p.Arg701Ser) rs370024759
NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)
NM_001079843.3(CASZ1):c.2161A>G (p.Ser721Gly)
NM_001100399.2(PDS5A):c.2153+1G>A rs1720512441
NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp)
NM_001127222.2(CACNA1A):c.38G>C (p.Gly13Ala) rs1462714993
NM_001127644.2(GABRA1):c.1315T>C (p.Trp439Arg) rs1755416622
NM_001127715.4(STXBP5):c.2498_2499insT (p.Gly834fs)
NM_001128840.3(CACNA1D):c.2777T>C (p.Phe926Ser)
NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)
NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)
NM_001134382.3(IQSEC1):c.2764G>A (p.Gly922Arg) rs1694511803
NM_001144967.3(NEDD4L):c.1592A>G (p.Lys531Arg) rs2145557222
NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)
NM_001148.6(ANK2):c.29G>A (p.Ser10Asn)
NM_001148.6(ANK2):c.3580G>T (p.Val1194Leu)
NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)
NM_001170629.2(CHD8):c.2365-10T>G
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)
NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile)
NM_001190274.2(FBXO11):c.147_182dup (p.Gln50_Pro61dup) rs1478658114
NM_001190737.2(NFIB):c.254G>T (p.Arg85Leu)
NM_001190737.2(NFIB):c.769G>C (p.Val257Leu)
NM_001197104.2(KMT2A):c.10426G>C (p.Asp3476His)
NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)
NM_001204.7(BMPR2):c.1790G>T (p.Arg597Leu) rs779639954
NM_001220.5(CAMK2B):c.767A>G (p.Asn256Ser)
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln) rs1038557470
NM_001270.4(CHD1):c.530A>G (p.Glu177Gly) rs1751687577
NM_001271.4(CHD2):c.5474T>G (p.Val1825Gly)
NM_001273.5(CHD4):c.4980A>G (p.Lys1660=) rs1948119039
NM_001282680.3(GAPVD1):c.2561del (p.Pro854fs)
NM_001287491.2(TET3):c.2755G>A (p.Ala919Thr)
NM_001303052.2(MYT1L):c.1029G>C (p.Glu343Asp)
NM_001303052.2(MYT1L):c.1181G>C (p.Arg394Thr)
NM_001306215.2(ZNF827):c.706C>T (p.Arg236Ter)
NM_001330078.2(NRXN1):c.1832A>T (p.Asp611Val)
NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)
NM_001348323.3(TRIP12):c.2355T>G (p.Cys785Trp) rs2154275791
NM_001348323.3(TRIP12):c.3035A>C (p.Glu1012Ala)
NM_001348768.2(HECW2):c.1496A>G (p.Asp499Gly) rs370055977
NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln) rs2037908174
NM_001350605.2(SRSF11):c.271G>C (p.Val91Leu)
NM_001352027.3(PHF21A):c.1493G>A (p.Ser498Asn)
NM_001366145.2(TRPM3):c.4685G>A (p.Cys1562Tyr)
NM_001367721.1(CASK):c.1994A>G (p.Lys665Arg)
NM_001367873.1(SOX6):c.17C>T (p.Ala6Val) rs2134341240
NM_001370348.2(PHF3):c.1592A>G (p.Asn531Ser)
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn) rs1202158646
NM_001371928.1(AHDC1):c.1322C>T (p.Pro441Leu)
NM_001374828.1(ARID1B):c.1745C>A (p.Pro582Gln)
NM_001375380.1(EBF3):c.146T>C (p.Leu49Pro)
NM_001375524.1(TRRAP):c.1795G>A (p.Ala599Thr) rs2116408599
NM_001375524.1(TRRAP):c.4340G>A (p.Arg1447His) rs577116284
NM_001376.5(DYNC1H1):c.10637A>G (p.Asp3546Gly)
NM_001376.5(DYNC1H1):c.2971A>G (p.Met991Val) rs1057518524
NM_001376.5(DYNC1H1):c.6512A>T (p.His2171Leu)
NM_001376.5(DYNC1H1):c.8574C>G (p.Phe2858Leu) rs778246294
NM_001376.5(DYNC1H1):c.9229G>C (p.Asp3077His) rs2048466928
NM_001378418.1(TCF20):c.3424G>A (p.Gly1142Ser)
NM_001378418.1(TCF20):c.4847A>T (p.Tyr1616Phe) rs2147197672
NM_001378418.1(TCF20):c.5555T>G (p.Phe1852Cys)
NM_001379291.1(BRD4):c.1021C>T (p.His341Tyr) rs2145599609
NM_001379403.1(WDR26):c.450G>A (p.Ala150=) rs543194934
NM_001385012.1(NBEA):c.1711C>G (p.Leu571Val)
NM_001385012.1(NBEA):c.7271G>T (p.Ser2424Ile) rs2153043712
NM_001386298.1(CIC):c.1975C>T (p.Arg659Cys)
NM_001386298.1(CIC):c.2131_2150delinsACGAT (p.Pro711_Glu717delinsThrMet)
NM_001386298.1(CIC):c.7018A>C (p.Lys2340Gln)
NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)
NM_001393769.1(MED12L):c.4900T>C (p.Tyr1634His)
NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg)
NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)
NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)
NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)
NM_001407.3(CELSR3):c.4399+1G>C
NM_001854.4(COL11A1):c.3304G>A (p.Gly1102Arg) rs1658599034
NM_001999.4(FBN2):c.3848-1G>A rs1750805468
NM_002246.3(KCNK3):c.460G>A (p.Val154Met)
NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly)
NM_002430.3(MN1):c.2986G>C (p.Gly996Arg) rs1933323211
NM_002911.4(UPF1):c.2138C>T (p.Ser713Phe) rs2145961561
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003070.5(SMARCA2):c.67C>T (p.Pro23Ser)
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_003073.5(SMARCB1):c.538G>C (p.Ala180Pro)
NM_003128.3(SPTBN1):c.328A>T (p.Ile110Phe)
NM_003128.3(SPTBN1):c.5216G>A (p.Arg1739Gln) rs531979350
NM_003482.4(KMT2D):c.15047T>C (p.Leu5016Pro)
NM_003482.4(KMT2D):c.16146C>G (p.His5382Gln)
NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu)
NM_003482.4(KMT2D):c.417C>G (p.His139Gln)
NM_003628.6(PKP4):c.1784G>A (p.Arg595Gln)
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly)
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu) rs2051853150
NM_004519.4(KCNQ3):c.2554C>A (p.Pro852Thr) rs2130922540
NM_004859.4(CLTC):c.4323+6G>A rs2143596658
NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_005121.3(MED13):c.2645T>C (p.Ile882Thr)
NM_005121.3(MED13):c.5112A>C (p.Arg1704Ser)
NM_005121.3(MED13):c.540T>G (p.Ile180Met)
NM_005157.6(ABL1):c.929C>T (p.Pro310Leu) rs1831276610
NM_005321.3(H1-4):c.610G>C (p.Ala204Pro) rs139427516
NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)
NM_005392.4(PHF2):c.3142G>A (p.Val1048Ile)
NM_005445.4(SMC3):c.1121A>C (p.Asp374Ala) rs1861074510
NM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe)
NM_006164.5(NFE2L2):c.1033G>C (p.Gly345Arg) rs747179142
NM_006180.6(NTRK2):c.479A>G (p.Lys160Arg)
NM_006180.6(NTRK2):c.91G>C (p.Ala31Pro)
NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn)
NM_006236.3(POU3F3):c.1480G>T (p.Gly494Trp) rs1288967379
NM_006268.5(DPF2):c.8C>G (p.Ala3Gly)
NM_006445.4(PRPF8):c.6791C>T (p.Ser2264Leu) rs1911033774
NM_006445.4(PRPF8):c.6793G>C (p.Asp2265His) rs2151109279
NM_006579.3(EBP):c.337C>A (p.Leu113Met) rs2147156355
NM_006618.5(KDM5B):c.563G>A (p.Gly188Glu)
NM_006662.3(SRCAP):c.3717G>A (p.Val1239=) rs2151293426
NM_006734.4(HIVEP2):c.5693C>G (p.Ser1898Cys)
NM_006766.5(KAT6A):c.5101C>T (p.Pro1701Ser) rs539376929
NM_006885.4(ZFHX3):c.2037C>G (p.His679Gln)
NM_006885.4(ZFHX3):c.320C>A (p.Pro107His) rs145239736
NM_006885.4(ZFHX3):c.7090C>G (p.Gln2364Glu)
NM_006908.5(RAC1):c.284C>T (p.Ala95Val) rs2115214243
NM_006922.4(SCN3A):c.5090A>G (p.Asn1697Ser) rs1685074140
NM_006939.4(SOS2):c.2308G>A (p.Glu770Lys) rs2139595006
NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys)
NM_006940.6(SOX5):c.668A>G (p.Gln223Arg) rs2140999106
NM_007118.4(TRIO):c.3166G>T (p.Val1056Leu) rs755777586
NM_007118.4(TRIO):c.5711C>T (p.Pro1904Leu)
NM_007118.4(TRIO):c.7048C>A (p.Pro2350Thr)
NM_007118.4(TRIO):c.8750A>C (p.Lys2917Thr) rs2126720106
NM_007327.4(GRIN1):c.1540G>C (p.Val514Leu)
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln)
NM_013275.6(ANKRD11):c.417C>A (p.His139Gln) rs748683740
NM_013275.6(ANKRD11):c.5044G>T (p.Gly1682Cys)
NM_013275.6(ANKRD11):c.5491G>T (p.Asp1831Tyr)
NM_014159.7(SETD2):c.170A>G (p.Lys57Arg)
NM_014159.7(SETD2):c.4464T>G (p.Asn1488Lys)
NM_014159.7(SETD2):c.557C>G (p.Pro186Arg)
NM_014159.7(SETD2):c.6011A>G (p.Asp2004Gly)
NM_014159.7(SETD2):c.7004A>G (p.Gln2335Arg)
NM_014423.4(AFF4):c.2638-4_2638del
NM_014489.4(PGAP2):c.112A>G (p.Ile38Val)
NM_014489.4(PGAP2):c.368C>T (p.Ser123Leu)
NM_014516.4(CNOT3):c.483+5G>A
NM_014712.3(SETD1A):c.706A>C (p.Thr236Pro) rs2143483723
NM_014742.4(TM9SF4):c.1411G>A (p.Gly471Ser)
NM_014892.5(SCAF8):c.3200_3204del (p.Ile1067fs)
NM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys)
NM_015001.3(SPEN):c.2900_2909delinsT (p.Glu967_Ala970delinsVal) rs2148738435
NM_015001.3(SPEN):c.4919C>T (p.Pro1640Leu)
NM_015001.3(SPEN):c.5780C>A (p.Pro1927Gln)
NM_015001.3(SPEN):c.9811A>G (p.Thr3271Ala)
NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)
NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)
NM_015215.4(CAMTA1):c.122A>G (p.His41Arg) rs1646960047
NM_015215.4(CAMTA1):c.234+62436_234+62440del
NM_015215.4(CAMTA1):c.4355G>T (p.Ser1452Ile) rs2096846819
NM_015215.4(CAMTA1):c.4487C>T (p.Ser1496Leu) rs2150108300
NM_015267.4(CUX2):c.2291C>T (p.Pro764Leu)
NM_015329.4(MAU2):c.744C>G (p.Ser248Arg)
NM_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
NM_015443.4(KANSL1):c.1765G>A (p.Val589Met) rs1357621164
NM_015443.4(KANSL1):c.2981G>T (p.Ser994Ile) rs2146306637
NM_015570.4(AUTS2):c.1960G>A (p.Val654Ile)
NM_015570.4(AUTS2):c.2309C>T (p.Thr770Ile)
NM_015570.4(AUTS2):c.2887G>C (p.Glu963Gln)
NM_015570.4(AUTS2):c.3062C>T (p.Ser1021Leu)
NM_016333.4(SRRM2):c.1310C>T (p.Ser437Phe) rs1317227596
NM_016604.4(KDM3B):c.3397_3398delinsAA (p.Ser1133Asn) rs2126987772
NM_016604.4(KDM3B):c.3871T>C (p.Ser1291Pro) rs2126994153
NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn)
NM_017934.7(PHIP):c.1054T>C (p.Ser352Pro) rs2127742331
NM_017934.7(PHIP):c.589C>T (p.Arg197Trp)
NM_018489.3(ASH1L):c.4400C>G (p.Pro1467Arg)
NM_018489.3(ASH1L):c.6218G>A (p.Arg2073His)
NM_018489.3(ASH1L):c.731C>T (p.Thr244Ile)
NM_018489.3(ASH1L):c.7622C>T (p.Ala2541Val)
NM_018489.3(ASH1L):c.8771T>C (p.Leu2924Pro)
NM_018896.5(CACNA1G):c.1501_1512del (p.His501_His504del) rs2144887301
NM_018896.5(CACNA1G):c.6086C>T (p.Pro2029Leu) rs2052945610
NM_019040.5(ELP4):c.1144-19903_1144-19902del
NM_020066.5(FMN2):c.3825G>T (p.Gly1275=) rs901699283
NM_020134.4(DPYSL5):c.600+2C>T
NM_020336.4(RALGAPB):c.2740C>T (p.Pro914Ser)
NM_020338.4(ZMIZ1):c.2131C>T (p.Arg711Trp)
NM_020774.4(MIB1):c.2212-3C>G
NM_020822.3(KCNT1):c.452A>G (p.Gln151Arg) rs1831337271
NM_020928.2(ZSWIM6):c.2569G>A (p.Glu857Lys) rs1749677033
NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)
NM_021956.5(GRIK2):c.215C>A (p.Pro72His)
NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val)
NM_022817.3(PER2):c.2399A>G (p.Lys800Arg)
NM_022817.3(PER2):c.958G>C (p.Gly320Arg)
NM_022835.3(PLEKHG2):c.3257A>G (p.Asp1086Gly) rs775055611
NM_022893.4(BCL11A):c.1474G>A (p.Glu492Lys)
NM_022893.4(BCL11A):c.431A>G (p.His144Arg) rs1449675152
NM_024496.4(IRF2BPL):c.462CGC[5] (p.Ala161_Ala164del) rs371633333
NM_030632.3(ASXL3):c.3230C>G (p.Ala1077Gly) rs2067692361
NM_030632.3(ASXL3):c.5221T>G (p.Ser1741Ala)
NM_030632.3(ASXL3):c.6395A>C (p.Lys2132Thr)
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys) rs1240460489
NM_030948.6(PHACTR1):c.1000G>T (p.Val334Phe) rs1770051610
NM_031407.7(HUWE1):c.4183T>C (p.Ser1395Pro) rs2064095549
NM_031407.7(HUWE1):c.572A>G (p.Tyr191Cys) rs2066941837
NM_031844.3(HNRNPU):c.1357T>G (p.Cys453Gly)
NM_032531.4(KIRREL3):c.2302C>T (p.Arg768Ter) rs368469108
NM_032538.3(TTBK1):c.735+1G>T rs1777362229
NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)
NM_130797.4(DPP6):c.1547+4A>G rs892160951
NM_138927.4(SON):c.5939C>T (p.Thr1980Ile) rs1393509538
NM_152641.4(ARID2):c.1630G>C (p.Glu544Gln) rs1943489555
NM_152641.4(ARID2):c.2575T>C (p.Ser859Pro) rs2138164349
NM_152641.4(ARID2):c.4693G>A (p.Val1565Ile)
NM_170606.3(KMT2C):c.11670+1G>C
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)
NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)
NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)
NM_170744.5(UNC5B):c.701G>A (p.Arg234His)
NM_172107.4(KCNQ2):c.112G>C (p.Gly38Arg)
NM_172107.4(KCNQ2):c.1189C>T (p.Leu397Phe)
NM_172362.3(KCNH1):c.2138T>A (p.Val713Glu)
NM_172362.3(KCNH1):c.854A>C (p.Lys285Thr) rs1348802993
NM_173602.3(DIP2B):c.3893T>G (p.Phe1298Cys)
NM_182641.4(BPTF):c.3474C>A (p.Asn1158Lys) rs2062639532
NM_182931.3(KMT2E):c.1378G>T (p.Ala460Ser)
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu) rs2079430530

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