ClinVar Miner

List of variants reported as uncertain significance by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu) rs62000407 0.00238
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser) rs773480617 0.00010
NM_012280.4(FTSJ1):c.769G>A (p.Gly257Ser) rs782303332 0.00005
NM_004793.4(LONP1):c.1271G>A (p.Arg424His) rs748335411 0.00004
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00004
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp) rs779077167 0.00003
NM_020137.5(GRIPAP1):c.1474C>T (p.Arg492Trp) rs1557062715 0.00002
NM_000188.3(HK1):c.1480G>A (p.Glu494Lys) rs1332719473 0.00001
NM_000875.5(IGF1R):c.3529C>T (p.Arg1177Cys) rs2016422373 0.00001
NM_001040142.2(SCN2A):c.2975C>T (p.Ala992Val) rs1309548488 0.00001
NM_001160372.4(TRAPPC9):c.1603A>T (p.Thr535Ser) rs756125925 0.00001
NM_001190737.2(NFIB):c.1330C>T (p.Arg444Ter) rs1191193223 0.00001
NM_001273.5(CHD4):c.1486C>G (p.Pro496Ala) rs1226303367 0.00001
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr) rs1277588922 0.00001
NM_001379110.1(SLC9A6):c.-57+26A>G rs782640388 0.00001
NM_001386298.1(CIC):c.5219C>T (p.Thr1740Met) rs2038076592 0.00001
NM_001693.4(ATP6V1B2):c.307T>G (p.Ser103Ala) rs1216774490 0.00001
NM_003072.5(SMARCA4):c.1073C>T (p.Pro358Leu) rs1060502094 0.00001
NM_003128.3(SPTBN1):c.646C>T (p.Arg216Trp) rs1677695509 0.00001
NM_003922.4(HERC1):c.2572C>T (p.Arg858Ter) rs764310338 0.00001
NM_015100.4(POGZ):c.2111C>G (p.Ser704Cys) rs1654079494 0.00001
NM_015909.4(NBAS):c.2290C>T (p.Pro764Ser) rs200532922 0.00001
NM_017736.5(THUMPD1):c.133G>A (p.Gly45Ser) rs1430954456 0.00001
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys) rs1178947201 0.00001
NM_024757.5(EHMT1):c.1248+1G>A rs1564693344 0.00001
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys) rs749476185 0.00001
NM_030805.4(LMAN2L):c.508-1102C>T rs758530620 0.00001
NM_153816.6(SNX14):c.1476-8A>G rs1475452583 0.00001
NM_000147.5(FUCA1):c.1004A>G (p.Tyr335Cys) rs1381233051
NM_000240.4(MAOA):c.1237C>T (p.Pro413Ser) rs2033963994
NM_000330.4(RS1):c.184+3139G>C rs779791138
NM_000489.6(ATRX):c.4292A>G (p.Gln1431Arg) rs2148450330
NM_000746.6(CHRNA7):c.90C>G (p.Tyr30Ter) rs770538645
NM_000827.4(GRIA1):c.2092C>T (p.Arg698Trp) rs564265256
NM_000834.5(GRIN2B):c.1568T>C (p.Val523Ala) rs2136479447
NM_000937.5(POLR2A):c.2732C>T (p.Pro911Leu) rs2150883515
NM_000937.5(POLR2A):c.381G>C (p.Lys127Asn) rs2150879653
NM_001001344.3(ATP2B3):c.3485C>T (p.Thr1162Met)
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala) rs1832975214
NM_001003694.2(BRPF1):c.3433C>T (p.Arg1145Ter) rs2125516283
NM_001005273.3(CHD3):c.1867C>T (p.Arg623Cys) rs923486409
NM_001015877.2(PHF6):c.743G>A (p.Gly248Asp) rs2077467203
NM_001020658.2(PUM1):c.3267_3270del (p.His1090fs) rs2124378402
NM_001032382.2(PQBP1):c.240C>G (p.Asp80Glu) rs1557041244
NM_001039591.3(USP9X):c.4563T>G (p.Asp1521Glu) rs2063011910
NM_001039591.3(USP9X):c.7454C>A (p.Pro2485Gln) rs2063351416
NM_001040142.2(SCN2A):c.4231G>C (p.Gly1411Arg) rs1553593860
NM_001042681.2(RERE):c.3249dup (p.Ser1084fs) rs745806637
NM_001042750.2(STAG2):c.907G>A (p.Glu303Lys) rs1556521622
NM_001069.3(TUBB2A):c.403C>G (p.Leu135Val) rs2113785610
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001081550.2(THOC2):c.3326T>C (p.Val1109Ala) rs2147599772
NM_001083619.3(GRIA2):c.2350A>G (p.Lys784Glu) rs2127000855
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001101.5(ACTB):c.350AGA[1] (p.Lys118del)
NM_001111125.3(IQSEC2):c.2990T>G (p.Val997Gly) rs2147049357
NM_001127222.2(CACNA1A):c.6780+1G>A
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs) rs1564280617
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.872del (p.Gln291fs) rs1564211389
NM_001134407.3(GRIN2A):c.1511G>A (p.Arg504Gln) rs1331671132
NM_001134407.3(GRIN2A):c.1827G>C (p.Trp609Cys) rs1555492790
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) rs2092522027
NM_001190274.2(FBXO11):c.1459T>C (p.Tyr487His)
NM_001190737.2(NFIB):c.30+1G>A
NM_001195553.2(DCX):c.187C>T (p.Arg63Cys) rs587783529
NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp)
NM_001220.5(CAMK2B):c.611T>C (p.Leu204Pro) rs2128968013
NM_001258392.3(CLPB):c.1781A>G (p.His594Arg) rs1565418087
NM_001270.4(CHD1):c.3737C>T (p.Ala1246Val) rs2112324458
NM_001273.5(CHD4):c.1766G>C (p.Gly589Ala) rs1565615605
NM_001282116.2(RFX3):c.763C>T (p.Arg255Cys) rs2131583484
NM_001282534.2(KCNK9):c.466A>G (p.Met156Val) rs1563717544
NM_001287491.2(TET3):c.5342C>A (p.Ser1781Tyr) rs2104237905
NM_001291415.2(KDM6A):c.1683+1G>A rs1569533871
NM_001318852.2(MAPK8IP3):c.3440G>A (p.Arg1147His) rs2141957171
NM_001330260.2(SCN8A):c.261C>G (p.Tyr87Ter) rs1484586967
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser) rs1592174367
NM_001330260.2(SCN8A):c.5162G>A (p.Cys1721Tyr) rs2138943030
NM_001330260.2(SCN8A):c.536C>T (p.Ala179Val) rs2138712976
NM_001330288.2(SMARCC2):c.1516C>T (p.Gln506Ter) rs2135696174
NM_001330700.2(TOP2B):c.1289A>G (p.Glu430Gly)
NM_001332.4(CTNND2):c.2653C>T (p.Arg885Ter) rs886041494
NM_001347721.2(DYRK1A):c.1158T>G (p.Phe386Leu) rs2053264281
NM_001347721.2(DYRK1A):c.263C>G (p.Ser88Cys)
NM_001348323.3(TRIP12):c.4909A>G (p.Met1637Val) rs2040410947
NM_001348800.3(ZBTB20):c.1845C>A (p.Phe615Leu)
NM_001353345.2(SETD1B):c.2078del (p.Pro693fs) rs2137560347
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=) rs1556347185
NM_001356.5(DDX3X):c.1282C>T (p.Arg428Trp) rs2147356782
NM_001356.5(DDX3X):c.1640A>T (p.Glu547Val) rs2147359960
NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile)
NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser)
NM_001367534.1(CAMK2G):c.715G>A (p.Asp239Asn)
NM_001367721.1(CASK):c.172+1G>A rs2147971387
NM_001368397.1(FRMPD4):c.2317C>G (p.Leu773Val)
NM_001370100.5(ZMYND11):c.220A>G (p.Lys74Glu) rs2131269173
NM_001370348.2(PHF3):c.3610C>T (p.Arg1204Ter) rs2149606956
NM_001371246.1(SCN2A):c.640T>C (p.Ser214Pro) rs1553567482
NM_001374828.1(ARID1B):c.3700G>A (p.Gly1234Arg) rs2128317800
NM_001375380.1(EBF3):c.135-2A>G
NM_001375524.1(TRRAP):c.11491G>A (p.Ala3831Thr)
NM_001375524.1(TRRAP):c.3904G>A (p.Ala1302Thr) rs1790410600
NM_001376.5(DYNC1H1):c.2678A>G (p.Tyr893Cys) rs2141275840
NM_001378615.1(CC2D2A):c.4544A>G (p.His1515Arg)
NM_001379291.1(BRD4):c.434A>G (p.Asp145Gly) rs2145609712
NM_001379451.1(BCORL1):c.2567_2568del (p.Gln856fs) rs2124451207
NM_001385012.1(NBEA):c.3296dup (p.Tyr1100fs) rs2152710919
NM_001385012.1(NBEA):c.8287G>A (p.Gly2763Arg) rs2153082051
NM_001386298.1(CIC):c.1449G>C (p.Lys483Asn)
NM_001389.5(DSCAM):c.5588del (p.Pro1863fs) rs1555869463
NM_001393769.1(MED12L):c.4373C>T (p.Thr1458Ile) rs772844769
NM_001429.4(EP300):c.3302C>T (p.Thr1101Ile) rs2145747224
NM_001429.4(EP300):c.3976G>A (p.Val1326Ile) rs1268191227
NM_001830.4(CLCN4):c.1517C>G (p.Pro506Arg) rs2147182703
NM_001830.4(CLCN4):c.1906G>A (p.Val636Met) rs771033388
NM_001830.4(CLCN4):c.274G>A (p.Val92Met) rs1569227811
NM_001904.4(CTNNB1):c.1189G>A (p.Gly397Arg) rs2125638599
NM_001958.5(EEF1A2):c.164A>G (p.Lys55Arg) rs2145945553
NM_002025.4(AFF2):c.3827A>G (p.Asp1276Gly) rs1569558083
NM_002069.6(GNAI1):c.238T>G (p.Ser80Ala) rs2115632680
NM_002524.5(NRAS):c.85G>A (p.Val29Ile) rs772665803
NM_002576.5(PAK1):c.259G>T (p.Val87Phe)
NM_002730.4(PRKACA):c.61G>C (p.Ala21Pro) rs1977645307
NM_002816.5(PSMD12):c.168+5G>A rs2143724794
NM_002971.6(SATB1):c.2110G>A (p.Gly704Ser) rs1482550358
NM_003036.4(SKI):c.1950C>A (p.Cys650Ter) rs113979182
NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly)
NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile) rs2145720045
NM_003073.5(SMARCB1):c.968AGA[1] (p.Lys324del) rs2146027176
NM_003073.5(SMARCB1):c.986+5G>T rs1555880607
NM_003076.5(SMARCD1):c.521G>A (p.Arg174His)
NM_003107.3(SOX4):c.130G>T (p.Gly44Cys) rs753093855
NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys) rs2103937586
NM_003403.5(YY1):c.976G>A (p.Val326Ile) rs2139604210
NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys) rs1383821738
NM_003482.4(KMT2D):c.1844C>G (p.Ser615Cys) rs1565819202
NM_003491.4(NAA10):c.478C>T (p.Arg160Trp) rs1569546258
NM_003922.4(HERC1):c.10475T>C (p.Val3492Ala) rs752824148
NM_004068.4(AP2M1):c.238G>A (p.Glu80Lys) rs2109029641
NM_004114.5(FGF13):c.32G>A (p.Arg11His) rs2090039732
NM_004187.5(KDM5C):c.2517-7_2517-6insTAG rs2146844967
NM_004229.4(MED14):c.4036G>A (p.Ala1346Thr) rs2146606969
NM_004380.3(CREBBP):c.5071A>T (p.Met1691Leu) rs1231818807
NM_004606.5(TAF1):c.4312C>T (p.Arg1438Cys) rs1569313767
NM_004958.4(MTOR):c.5698C>T (p.Leu1900Phe) rs1643023228
NM_005121.3(MED13):c.5255A>G (p.Asp1752Gly) rs1338316283
NM_005333.5(HCCS):c.161C>T (p.Pro54Leu) rs1555955059
NM_005392.4(PHF2):c.1475dup (p.Thr493fs)
NM_005445.4(SMC3):c.631G>T (p.Ala211Ser)
NM_005458.8(GABBR2):c.1844G>A (p.Trp615Ter) rs1831608735
NM_005629.4(SLC6A8):c.1553G>T (p.Trp518Leu) rs1569539454
NM_005639.3(SYT1):c.1127_1128dup (p.Val377fs) rs1565962778
NM_005859.5(PURA):c.265G>A (p.Ala89Thr) rs587782999
NM_005862.3(STAG1):c.2503G>A (p.Asp835Asn) rs1937195341
NM_006015.6(ARID1A):c.2149G>A (p.Ala717Thr) rs2124057017
NM_006078.5(CACNG2):c.436+1G>A rs2145905176
NM_006086.4(TUBB3):c.1188C>G (p.His396Gln)
NM_006196.4(PCBP1):c.137G>A (p.Arg46Gln) rs2104759178
NM_006506.5(RASA2):c.1376A>C (p.Tyr459Ser) rs756067549
NM_006593.4(TBR1):c.1190+5G>A rs2105280484
NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn) rs1561790136
NM_006852.6(TLK2):c.1771del (p.Asp591fs) rs2082914363
NM_007118.4(TRIO):c.5879A>C (p.Glu1960Ala) rs2126551592
NM_007192.4(SUPT16H):c.2515G>A (p.Glu839Lys) rs2139397532
NM_007363.5(NONO):c.142G>T (p.Ala48Ser) rs1569238685
NM_014008.5(CCDC22):c.1229G>A (p.Ser410Asn) rs1569529393
NM_014159.7(SETD2):c.1328G>A (p.Arg443Lys) rs2106700573
NM_014159.7(SETD2):c.5218C>G (p.Arg1740Gly) rs1057523157
NM_014232.3(VAMP2):c.60del (p.Ala21fs) rs2151865530
NM_014233.4(UBTF):c.1375_1380delinsT (p.Arg459fs) rs2144532981
NM_014370.4(SRPK3):c.806A>C (p.Lys269Thr)
NM_014712.3(SETD1A):c.3243del (p.Arg1082fs) rs2143538061
NM_014717.3(ZNF536):c.1015G>T (p.Glu339Ter) rs774965623
NM_014921.5(ADGRL1):c.3427C>T (p.Arg1143Ter)
NM_014946.4(SPAST):c.167C>A (p.Pro56Gln) rs1676399509
NM_014974.3(DIP2C):c.2208_2209dup (p.Ala737fs) rs779890829
NM_014974.3(DIP2C):c.2232del (p.Tyr745fs)
NM_014974.3(DIP2C):c.3757C>T (p.Arg1253Ter) rs2132443689
NM_014974.3(DIP2C):c.4314C>G (p.Tyr1438Ter) rs766542518
NM_014991.6(WDFY3):c.4592+1G>A
NM_014991.6(WDFY3):c.7676A>G (p.Lys2559Arg) rs2149066183
NM_015076.5(CDK19):c.764T>C (p.Ile255Thr) rs2114669112
NM_015100.4(POGZ):c.3914T>G (p.Leu1305Arg) rs1557863033
NM_015335.5(MED13L):c.2570-1G>T rs2137331044
NM_015386.3(COG4):c.2286_2299del (p.Trp762fs) rs1555572987
NM_015409.5(EP400):c.3349_3352del (p.Leu1117fs) rs2136530742
NM_015409.5(EP400):c.6538G>T (p.Glu2180Ter) rs1234659324
NM_015981.4(CAMK2A):c.1409A>G (p.Asp470Gly)
NM_016032.4(ZDHHC9):c.496G>C (p.Asp166His)
NM_016281.4(TAOK3):c.1009del (p.Ser336_Leu337insTer) rs2139244484
NM_016284.5(CNOT1):c.820C>T (p.Arg274Cys)
NM_016343.4(CENPF):c.1324-2A>G rs1553287472
NM_016604.4(KDM3B):c.3910C>T (p.Leu1304Phe) rs2126994232
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_017635.5(KMT5B):c.1331C>G (p.Pro444Arg) rs1030358713
NM_017780.4(CHD7):c.2219A>G (p.Asp740Gly) rs761748737
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys) rs1064794250
NM_017934.7(PHIP):c.5021del (p.Asp1673_Leu1674insTer) rs2127677696
NM_018026.4(PACS1):c.1862C>T (p.Pro621Leu) rs1554993480
NM_018263.6(ASXL2):c.2851C>T (p.Pro951Ser)
NM_018489.3(ASH1L):c.2201T>C (p.Leu734Pro) rs889968109
NM_019066.5(MAGEL2):c.1542G>T (p.Trp514Cys) rs2140715759
NM_020338.4(ZMIZ1):c.3150dup (p.Asp1051fs)
NM_020706.2(SCAF4):c.1322G>C (p.Arg441Thr) rs2123543369
NM_020765.3(UBR4):c.10821C>T (p.Asn3607=) rs2149407177
NM_020791.4(TAOK1):c.210G>A (p.Trp70Ter) rs2153026442
NM_020928.2(ZSWIM6):c.3488G>A (p.Arg1163Gln) rs2112298347
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021120.4(DLG3):c.2348-42_2348-4delinsAAGAGGAAAACAAAATTATTACTGTATACAG rs2147896811
NM_021160.3(ABHD16A):c.19T>C (p.Cys7Arg) rs2151263491
NM_022095.4(ZNF335):c.3101T>C (p.Met1034Thr) rs1555845134
NM_022552.5(DNMT3A):c.2390A>G (p.Asn797Ser)
NM_024757.5(EHMT1):c.2624C>G (p.Thr875Arg) rs1953423865
NM_024757.5(EHMT1):c.3325T>C (p.Cys1109Arg) rs2132759440
NM_024757.5(EHMT1):c.3897_*6del (p.Ter1299TrpextTer?) rs2133163719
NM_024757.5(EHMT1):c.40del (p.Glu14fs) rs1564618717
NM_024989.4(PGAP1):c.1351-1G>T
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
NM_025150.5(TARS2):c.388-1G>C rs2102476204
NM_030632.3(ASXL3):c.4605_4606dup (p.Ser1536fs) rs1599574430
NM_030665.4(RAI1):c.5638T>C (p.Tyr1880His) rs1567936444
NM_030973.4(MED25):c.275A>G (p.Tyr92Cys) rs549136898
NM_031206.7(LAS1L):c.1396G>T (p.Val466Phe) rs2148286671
NM_031407.7(HUWE1):c.12624C>G (p.His4208Gln) rs1395806356
NM_031407.7(HUWE1):c.1627A>G (p.Ile543Val) rs2066367374
NM_032531.4(KIRREL3):c.2191G>T (p.Val731Phe) rs119462980
NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu)
NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu)
NM_032776.3(JMJD1C):c.7225-2A>G rs2132807373
NM_052874.5(STX1B):c.821T>C (p.Leu274Pro)
NM_052876.4(NACC1):c.133C>T (p.Arg45Trp) rs1555722264
NM_057175.5(NAA15):c.426G>T (p.Gln142His) rs2110915299
NM_080632.3(UPF3B):c.1265AAG[2] (p.Glu424del) rs2056115071
NM_133433.4(NIPBL):c.5427+3A>G rs1363419528
NM_145059.3(FCSK):c.3164A>G (p.Asn1055Ser)
NM_145059.3(FCSK):c.506G>A (p.Arg169Gln)
NM_145716.4(SSBP3):c.177del (p.Leu59fs) rs2100828944
NM_152383.5(DIS3L2):c.1232C>A (p.Ala411Asp) rs2106252250
NM_170606.3(KMT2C):c.9517+5G>A
NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle)
NM_173495.3(PTCHD1):c.2525dup (p.Leu842fs) rs1922905471
NM_177559.3(CSNK2A1):c.193GTT[2] (p.Val67del)
NM_177559.3(CSNK2A1):c.193del (p.Val65fs) rs2018548367
NM_177559.3(CSNK2A1):c.511-3C>G rs1568507974
NM_182641.4(BPTF):c.3805_3806del (p.Leu1269fs) rs2146930662
NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr)
NM_182931.3(KMT2E):c.5226dup (p.Pro1743fs) rs2129570272
NM_199334.5(THRA):c.814G>A (p.Asp272Asn) rs2145085076

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