ClinVar Miner

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

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ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
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_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
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_000082.4(ERCC8):c.618-1G>A rs201464610 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_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter) rs755133567 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_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_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000381.4(MID1):c.1619_1638del (p.Arg540fs)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
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.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_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_001123385.2(BCOR):c.1039_1040del (p.Thr347fs)
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001134673.4(NFIA):c.1051C>T (p.Arg351Ter) rs1422656895
NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) rs1475000361
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
NM_001197104.2(KMT2A):c.4171C>T (p.Gln1391Ter) rs2134311608
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_001353921.2(ARHGEF9):c.1268G>A (p.Trp423Ter)
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366521.1(ATP2B1):c.2570A>G (p.Gln857Arg)
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
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_001394372.1(BICRA):c.3679_3680del (p.Leu1227fs)
NM_001673.5(ASNS):c.2T>C (p.Met1Thr)
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
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_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_002471.4(MYH6):c.5797-1G>A
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_003849.4(SUCLG1):c.626C>A (p.Ala209Glu)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
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_004859.4(CLTC):c.2325_2327del (p.Ile776del) rs1598233581
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_005249.5(FOXG1):c.499del (p.Glu167fs)
NM_005321.3(H1-4):c.441dup (p.Lys148fs) rs1131690806
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_006306.4(SMC1A):c.2973+1G>A
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_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_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
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_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_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_016955.5(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_019066.5(MAGEL2):c.3043C>T (p.Gln1015Ter)
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_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_030632.3(ASXL3):c.3065del (p.Pro1022fs)
NM_032436.4(CHAMP1):c.2068_2069del (p.Glu690fs)
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) rs1565369746
NM_052867.4(NALCN):c.3319del (p.Ala1107fs)
NM_052867.4(NALCN):c.683_684dup (p.Cys229fs)
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_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_176787.5(PIGN):c.1859+3A>G
NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg) rs2018334830
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_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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