ClinVar Miner

List of variants reported as likely pathogenic for not provided by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
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_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001101.5(ACTB):c.180C>G (p.Ser60Arg)
NM_001113378.2(FANCI):c.1631T>C (p.Leu544Pro)
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001134407.3(GRIN2A):c.3041G>A (p.Trp1014Ter)
NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly) rs397514640
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln) rs1131692261
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_001940.4(ATN1):c.3155A>C (p.His1052Pro) rs2138219892
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_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_004830.4(MED23):c.3142T>A (p.Tyr1048Asn)
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
NM_006796.3(AFG3L2):c.2073_2096dup (p.Glu691_Asp698dup)
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
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_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.4888del (p.Arg1630fs)
NM_016120.4(RLIM):c.131A>G (p.Tyr44Cys)
NM_016955.4(SEPSECS):c.114+3A>G
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_181458.4(PAX3):c.530C>G (p.Ala177Gly)
NM_183075.3(CYP2U1):c.1325T>A (p.Ile442Asn)

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