ClinVar Miner

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

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Total variants: 115
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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_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
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_000275.3(OCA2):c.1047C>T (p.Ile349=) rs767182132 0.00010
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
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_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_015378.4(VPS13D):c.946C>T (p.Arg316Ter) rs758368974 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_000082.4(ERCC8):c.173+3_173+6del
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
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_000381.4(MID1):c.1798del (p.His600fs)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
NM_001029896.2(WDR45):c.641G>A (p.Gly214Asp)
NM_001101.5(ACTB):c.180C>G (p.Ser60Arg)
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001113378.2(FANCI):c.1631T>C (p.Leu544Pro)
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001134407.3(GRIN2A):c.3041G>A (p.Trp1014Ter)
NM_001162501.2(TNRC6B):c.4858C>T (p.Arg1620Ter)
NM_001183.6(ATP6AP1):c.530T>C (p.Leu177Pro)
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg) rs2134335014
NM_001353345.2(SETD1B):c.5375G>A (p.Arg1792Gln) rs2137588997
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
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_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)
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_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_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
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_003632.3(CNTNAP1):c.74G>T (p.Cys25Phe)
NM_003718.5(CDK13):c.2507G>T (p.Arg836Ile)
NM_003907.3(EIF2B5):c.1165G>A (p.Val389Met)
NM_003907.3(EIF2B5):c.468C>G (p.Ile156Met)
NM_004171.4(SLC1A2):c.872G>A (p.Gly291Asp)
NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser)
NM_004830.4(MED23):c.3142T>A (p.Tyr1048Asn)
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg) rs2143629984
NM_005445.4(SMC3):c.3625_3630dup (p.Val1210_Glu1211insPheVal)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
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_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_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter) rs772475341
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met) rs1595560288
NM_013328.4(PYCR2):c.647T>G (p.Met216Arg)
NM_013328.4(PYCR2):c.752G>A (p.Arg251His)
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_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_016955.4(SEPSECS):c.114+3A>G
NM_020719.3(PRR12):c.1345C>T (p.Gln449Ter)
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_024665.7(TBL1XR1):c.503A>G (p.His168Arg)
NM_024915.4(GRHL2):c.1192T>C (p.Tyr398His) rs587777737
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_031844.3(HNRNPU):c.803G>A (p.Arg268Lys)
NM_032531.4(KIRREL3):c.941G>T (p.Cys314Phe)
NM_052867.4(NALCN):c.1756G>C (p.Ala586Pro)
NM_052988.5(CDK10):c.24C>A (p.Cys8Ter)
NM_139075.4(TPCN2):c.628C>T (p.Arg210Cys)
NM_170606.3(KMT2C):c.13894+2T>G
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)
NM_183075.3(CYP2U1):c.1325T>A (p.Ile442Asn)

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