ClinVar Miner

List of variants reported as uncertain significance by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559 0.00605
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_005522.5(HOXA1):c.566A>C (p.Glu189Ala) rs17500494 0.00340
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu) rs139640415 0.00249
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly) rs148721221 0.00172
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373 0.00152
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) rs139671268 0.00141
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) rs147127279 0.00089
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His) rs144164281 0.00081
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681 0.00076
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734 0.00075
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu) rs147600006 0.00065
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) rs149300669 0.00061
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser) rs145882968 0.00055
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370 0.00053
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu) rs199700538 0.00046
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343 0.00043
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln) rs147287319 0.00040
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00038
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) rs200899164 0.00030
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln) rs148405740 0.00029
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_001160372.4(TRAPPC9):c.2077G>A (p.Ala693Thr) rs147044768 0.00026
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366 0.00024
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met) rs150119795 0.00024
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_006059.4(LAMC3):c.3805G>A (p.Gly1269Ser) rs201011683 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp) rs140467698 0.00019
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) rs150298985 0.00019
NM_001082971.2(DDC):c.1435A>G (p.Arg479Gly) rs200450773 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp) rs143413559 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr) rs762765901 0.00010
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00010
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys) rs749651452 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_182961.4(SYNE1):c.23791-7C>T rs375558499 0.00010
NM_016302.4(CRBN):c.937G>C (p.Asp313His) rs142337178 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_133433.4(NIPBL):c.6954+3A>G rs769439754 0.00007
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu) rs540468070 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_006059.4(LAMC3):c.2744G>A (p.Arg915Gln) rs749496192 0.00006
NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro) rs201361687 0.00006
NM_020964.3(EPG5):c.5945G>A (p.Ser1982Asn) rs377447365 0.00005
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870 0.00004
NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) rs753254213 0.00004
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739 0.00003
NM_003036.4(SKI):c.964C>T (p.Pro322Ser) rs779317743 0.00003
NM_006279.5(ST3GAL3):c.344G>A (p.Arg115His) rs767108992 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839 0.00003
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767 0.00003
NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His) rs372272053 0.00002
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln) rs782632137 0.00002
NM_002693.3(POLG):c.17G>C (p.Trp6Ser) rs1057524249 0.00002
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) rs398124264 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_024528.4(NKAP):c.768G>T (p.Lys256Asn) rs372119031 0.00002
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys) rs773004067 0.00001
NM_001282531.3(ADNP):c.391C>G (p.Pro131Ala) rs1020146684 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) rs782759179 0.00001
NM_001939.3(DRP2):c.463C>T (p.Arg155Trp) rs779203586 0.00001
NM_003070.5(SMARCA2):c.2329C>G (p.Leu777Val) rs771591197 0.00001
NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter) rs759503883 0.00001
NM_000071.3(CBS):c.667-10_667-7del rs376011228
NM_000071.3(CBS):c.992C>T (p.Ala331Val) rs777919630
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000240.4(MAOA):c.1003A>G (p.Ile335Val) rs2033892290
NM_000245.4(MET):c.146A>C (p.Glu49Ala) rs370499060
NM_000277.3(PAH):c.166del (p.Glu56fs) rs1878251285
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln) rs145238683
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_001015877.2(PHF6):c.1019A>G (p.Glu340Gly) rs2124261565
NM_001039591.3(USP9X):c.2594A>C (p.Asp865Ala) rs2147118179
NM_001039591.3(USP9X):c.430A>G (p.Ile144Val) rs2147028382
NM_001040142.2(SCN2A):c.5341G>A (p.Val1781Ile) rs2105403003
NM_001079802.2(FKTN):c.126del (p.Lys42fs) rs2132595043
NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs) rs2148659573
NM_001127222.2(CACNA1A):c.1197_1198+6del rs2058520032
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val) rs2059190094
NM_001128840.3(CACNA1D):c.4509del (p.Asp1504fs) rs2095400961
NM_001130438.3(SPTAN1):c.655C>T (p.Gln219Ter) rs1851359356
NM_001134407.3(GRIN2A):c.2197G>T (p.Ala733Ser) rs796052550
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro) rs534440095
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp) rs147706514
NM_001162501.2(TNRC6B):c.5+1G>A rs2146376646
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys) rs2105769188
NM_001190737.2(NFIB):c.364del (p.Arg122fs) rs2132702680
NM_001197104.2(KMT2A):c.2618G>A (p.Ser873Asn) rs1057519618
NM_001273.5(CHD4):c.673_693del (p.Ser225_Ala231del) rs2136224838
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val) rs2066303451
NM_001370348.2(PHF3):c.3890G>A (p.Arg1297His) rs1767915033
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup) rs797045268
NM_001375524.1(TRRAP):c.9964C>T (p.Arg3322Ter) rs2116810728
NM_001376.5(DYNC1H1):c.10755-2A>G rs2152593620
NM_001379451.1(BCORL1):c.3601G>C (p.Glu1201Gln) rs372174837
NM_001394062.1(MACF1):c.16135A>C (p.Ile5379Leu) rs2148637793
NM_001394998.1(TANC2):c.2890T>C (p.Cys964Arg) rs2147151323
NM_001677.4(ATP1B1):c.814dup (p.Ile272fs) rs2101796350
NM_002641.4(PIGA):c.178C>G (p.Leu60Val) rs1922166519
NM_003072.5(SMARCA4):c.413G>T (p.Gly138Val) rs11537672
NM_003089.6(SNRNP70):c.772C>T (p.Arg258Cys) rs1474360802
NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter) rs1553602498
NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu) rs2052626228
NM_004380.3(CREBBP):c.4134-4T>A rs2052155482
NM_004396.5(DDX5):c.839C>T (p.Ala280Val) rs2144261850
NM_004432.5(ELAVL2):c.189dup (p.Glu64Ter) rs2136018631
NM_004615.4(TSPAN7):c.190G>A (p.Gly64Arg) rs1556001023
NM_004615.4(TSPAN7):c.516del (p.Ser173fs) rs752121179
NM_004859.4(CLTC):c.2881C>G (p.Leu961Val) rs2143586655
NM_005120.3(MED12):c.4685T>G (p.Leu1562Arg) rs2092327068
NM_006593.4(TBR1):c.1145T>C (p.Ile382Thr) rs1684206632
NM_006662.3(SRCAP):c.5285C>A (p.Pro1762Gln) rs755651719
NM_013275.6(ANKRD11):c.4112_4129del (p.Ala1371_Lys1376del) rs754339551
NM_014389.3(PELP1):c.1664del (p.Leu555fs) rs1912321794
NM_014847.4(UBAP2L):c.2724C>A (p.Tyr908Ter) rs763832290
NM_014874.4(MFN2):c.1117C>T (p.Arg373Ter) rs1639200820
NM_015557.3(CHD5):c.815C>T (p.Ala272Val) rs2100866749
NM_015559.3(SETBP1):c.4675G>A (p.Ala1559Thr) rs2073926608
NM_015570.4(AUTS2):c.691G>T (p.Ala231Ser) rs2129547444
NM_016269.5(LEF1):c.928A>G (p.Met310Val) rs2126285505
NM_018136.5(ASPM):c.1402_1406del (p.Asn468fs) rs1245021867
NM_018136.5(ASPM):c.3599-7A>G rs886045777
NM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys) rs1931186403
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) rs587783737
NM_030632.3(ASXL3):c.5257_5267del (p.Leu1753fs) rs2067754658
NM_054027.6(ANKH):c.922C>G (p.Pro308Ala) rs1057521543
NM_172107.4(KCNQ2):c.122dup (p.Ile42fs) rs2082237543
NM_181486.4(TBX5):c.242G>T (p.Arg81Met)
NM_181486.4(TBX5):c.254C>T (p.Pro85Leu) rs1565941576
NM_181486.4(TBX5):c.520A>G (p.Asn174Asp) rs1565939347
NM_181486.4(TBX5):c.694T>G (p.Phe232Val) rs1565935405
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) rs373040273

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