ClinVar Miner

List of variants reported by Laboratoire de Génétique Moléculaire, CHU Bordeaux

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) rs767182132 0.00010
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs) rs751050956 0.00005
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_000082.4(ERCC8):c.618-1G>A rs201464610 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter) rs758368974 0.00001
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 0.00001
NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) rs1292041526 0.00001
NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) rs916775904 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_176787.5(PIGN):c.2600T>C (p.Ile867Thr) rs745844688 0.00001
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro) rs764296457 0.00001
11p15.1 deletion
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
NM_000082.4(ERCC8):c.173+3_173+6del
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000194.3(HPRT1):c.533-1G>A
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000271.5(NPC1):c.1459dup (p.Tyr487fs)
NM_000275.3(OCA2):c.1045-10T>G
NM_000275.3(OCA2):c.1064C>A (p.Ala355Glu)
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) rs200398581
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
NM_000275.3(OCA2):c.1116+6T>C
NM_000275.3(OCA2):c.1481C>T (p.Ser494Phe)
NM_000275.3(OCA2):c.1778T>C (p.Phe593Ser)
NM_000275.3(OCA2):c.1874A>G (p.Lys625Arg)
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) rs2140372179
NM_000275.3(OCA2):c.2089C>T (p.His697Tyr)
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)
NM_000275.3(OCA2):c.516-3C>A
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000381.4(MID1):c.1619_1638del (p.Arg540fs)
NM_000381.4(MID1):c.1798del (p.His600fs)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
NM_000878.5(IL2RB):c.286C>T (p.Gln96Ter) rs1569044747
NM_001003694.2(BRPF1):c.945G>A (p.Trp315Ter)
NM_001008537.3(NEXMIF):c.2376C>A (p.Cys792Ter)
NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)
NM_001032221.6(STXBP1):c.82T>G (p.Trp28Gly)
NM_001039591.3(USP9X):c.7188dup (p.Asn2397Ter)
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.605+1G>A
NM_001080517.3(SETD5):c.1571dup (p.Asn524fs)
NM_001080517.3(SETD5):c.1626del (p.Asp542fs)
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001083961.2(WDR62):c.1175_1200dup (p.Leu401fs)
NM_001083962.2(TCF4):c.1879+1G>T
NM_001101.5(ACTB):c.180C>G (p.Ser60Arg)
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001113378.2(FANCI):c.1631T>C (p.Leu544Pro)
NM_001123385.2(BCOR):c.1039_1040del (p.Thr347fs)
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001134407.3(GRIN2A):c.3041G>A (p.Trp1014Ter)
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter) rs1422656895
NM_001162501.2(TNRC6B):c.4858C>T (p.Arg1620Ter)
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
NM_001183.6(ATP6AP1):c.530T>C (p.Leu177Pro)
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) rs2134335014
NM_001197104.2(KMT2A):c.9068del (p.Gln3023fs)
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001272071.2(AP1S2):c.288+1G>A
NM_001272071.2(AP1S2):c.54G>A (p.Trp18Ter)
NM_001273.5(CHD4):c.3280G>A (p.Glu1094Lys)
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter) rs1085307703
NM_001347721.2(DYRK1A):c.1729_1732del (p.Glu577fs)
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001349338.3(FOXP1):c.1321_1324dup (p.Lys442fs)
NM_001349338.3(FOXP1):c.913_914del (p.His305fs)
NM_001353345.2(SETD1B):c.1044_1056del (p.Ser349fs)
NM_001353345.2(SETD1B):c.5375G>A (p.Arg1792Gln) rs2137588997
NM_001353921.2(ARHGEF9):c.1268G>A (p.Trp423Ter)
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366521.1(ATP2B1):c.2570A>G (p.Gln857Arg)
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001370100.5(ZMYND11):c.4G>A (p.Ala2Thr)
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)
NM_001394372.1(BICRA):c.3679_3680del (p.Leu1227fs)
NM_001673.5(ASNS):c.2T>C (p.Met1Thr)
NM_001673.5(ASNS):c.58A>C (p.Ser20Arg)
NM_001673.5(ASNS):c.736C>T (p.Arg246Cys) rs757828751
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn) rs1064794385
NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366
NM_001923.5(DDB1):c.637G>A (p.Glu213Lys) rs2134934938
NM_001940.4(ATN1):c.3155A>C (p.His1052Pro) rs2138219892
NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr) rs2082414008
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
NM_002471.4(MYH6):c.5797-1G>A
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) rs1591695781
NM_002577.4(PAK2):c.836A>C (p.Gln279Pro)
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002662.5(PLD1):c.2083C>T (p.Arg695Cys)
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val) rs1194593234
NM_003011.4(SET):c.663+1G>C
NM_003106.4(SOX2):c.402dup (p.Gly135fs)
NM_003403.5(YY1):c.1114A>C (p.Thr372Pro)
NM_003403.5(YY1):c.1124G>A (p.Arg375Gln) rs2139605796
NM_003470.3(USP7):c.1794dup (p.Asn599fs)
NM_003482.4(KMT2D):c.16084_16085del (p.Lys5362fs)
NM_003482.4(KMT2D):c.9962_9993del (p.Arg3321fs)
NM_003632.3(CNTNAP1):c.74G>T (p.Cys25Phe)
NM_003718.5(CDK13):c.2507G>T (p.Arg836Ile)
NM_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)
NM_003907.3(EIF2B5):c.1165G>A (p.Val389Met)
NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004171.4(SLC1A2):c.872G>A (p.Gly291Asp)
NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys) rs2033690347
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_004446.3(EPRS1):c.1459A>G (p.Met487Val)
NM_004446.3(EPRS1):c.635T>C (p.Ile212Thr)
NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser)
NM_004830.4(MED23):c.3142T>A (p.Tyr1048Asn)
NM_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_005249.5(FOXG1):c.499del (p.Glu167fs)
NM_005321.3(H1-4):c.441dup (p.Lys148fs) rs1131690806
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005445.4(SMC3):c.3625_3630dup (p.Val1210_Glu1211insPheVal)
NM_005859.5(PURA):c.596G>C (p.Arg199Pro) rs587783001
NM_005859.5(PURA):c.98del (p.Gly33fs)
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser) rs1064793838
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006306.4(SMC1A):c.2973+1G>A
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
NM_006734.4(HIVEP2):c.6626_6627del (p.Tyr2209fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs)
NM_006796.3(AFG3L2):c.2073_2096dup (p.Glu691_Asp698dup)
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007186.6(CEP250):c.1494_1503delinsCCT (p.Gln499fs)
NM_007186.6(CEP250):c.1510C>T (p.Gln504Ter)
NM_007186.6(CEP250):c.2155C>T (p.Arg719Ter) rs1051944154
NM_007186.6(CEP250):c.2206C>T (p.Arg736Ter)
NM_007186.6(CEP250):c.2908del (p.Gln970fs)
NM_007186.6(CEP250):c.4020+1G>A
NM_007186.6(CEP250):c.4027C>T (p.Arg1343Ter) rs774612231
NM_007186.6(CEP250):c.4272_4273delinsT (p.Leu1425fs) rs2064043746
NM_007186.6(CEP250):c.5171del (p.Leu1724fs)
NM_007186.6(CEP250):c.547del (p.Glu183fs)
NM_012064.4(MIP):c.615G>A (p.Trp205Ter)
NM_012199.5(AGO1):c.1073A>G (p.Gln358Arg)
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012309.5(SHANK2):c.180_187del (p.Val61fs)
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013328.4(PYCR2):c.647T>G (p.Met216Arg)
NM_013328.4(PYCR2):c.752G>A (p.Arg251His)
NM_014491.4(FOXP2):c.337del (p.Leu113fs)
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
NM_014795.4(ZEB2):c.3122_3125dup (p.Ile1043fs)
NM_014795.4(ZEB2):c.978_989del (p.His328_Ser331del)
NM_015001.3(SPEN):c.2236_2246del (p.Glu745_Arg746insTer)
NM_015021.3(ZNF292):c.2404C>T (p.Gln802Ter)
NM_015021.3(ZNF292):c.4888del (p.Arg1630fs)
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015338.6(ASXL1):c.4118_4119del (p.Phe1373fs)
NM_015338.6(ASXL1):c.4224dup (p.Pro1409fs)
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val) rs868354311
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)
NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)
NM_016284.5(CNOT1):c.3055C>T (p.Gln1019Ter)
NM_016614.3(TDP2):c.949C>T (p.Arg317Ter) rs142438588
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_017909.4(RMND1):c.87del (p.Met29fs)
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018297.4(NGLY1):c.781dup (p.Asp261fs)
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
NM_018669.6(WDR4):c.911_927dup (p.Gln310fs) rs1569314907
NM_019042.5(PUS7):c.920+5G>A
NM_019066.5(MAGEL2):c.3043C>T (p.Gln1015Ter)
NM_020719.3(PRR12):c.1345C>T (p.Gln449Ter)
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_022893.4(BCL11A):c.147del (p.Gln50fs)
NM_022893.4(BCL11A):c.1616_1622dup (p.Ala542fs)
NM_022912.2(REEP1):c.106delG
NM_024513.4(FYCO1):c.4362-2A>G
NM_024665.7(TBL1XR1):c.503A>G (p.His168Arg)
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) rs587777737
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_030632.3(ASXL3):c.3065del (p.Pro1022fs)
NM_031844.3(HNRNPU):c.803G>A (p.Arg268Lys)
NM_032436.4(CHAMP1):c.2068_2069del (p.Glu690fs)
NM_032531.4(KIRREL3):c.941G>T (p.Cys314Phe)
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) rs1565369746
NM_052867.4(NALCN):c.1756G>C (p.Ala586Pro)
NM_052867.4(NALCN):c.3319del (p.Ala1107fs)
NM_052867.4(NALCN):c.683_684dup (p.Cys229fs)
NM_052988.5(CDK10):c.24C>A (p.Cys8Ter)
NM_057175.5(NAA15):c.1088-2A>G
NM_057175.5(NAA15):c.908-2A>C
NM_078480.3(PUF60):c.852_853del (p.Ser285fs)
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs) rs587784509
NM_138425.4(C12orf57):c.55dup (p.Val19fs)
NM_138576.4(BCL11B):c.1216_1219dup (p.Pro407fs)
NM_139075.4(TPCN2):c.628C>T (p.Arg210Cys)
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
NM_153676.4(USH1C):c.1099G>T (p.Glu367Ter) rs2133868490
NM_170606.3(KMT2C):c.13894+2T>G
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
NM_176787.5(PIGN):c.1859+3A>G
NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg) rs2018334830
NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.2(HPS5):c.1900del (p.Glu634fs) rs1131692146
NM_181507.2(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs) rs1131692151
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs) rs886041723
NM_181507.2(HPS5):c.3058+3A>G rs113304476
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del) rs753928208
NM_181507.2(HPS5):c.818_822del (p.Thr273fs) rs1131692147
NM_183075.3(CYP2U1):c.1195del (p.Gln399fs)
NM_183075.3(CYP2U1):c.1325T>A (p.Ile442Asn)
NM_201280.3(BLOC1S5):c.345del (p.Val116fs) rs1763106978
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs) rs1085307108
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
Single allele

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