ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability by Diagnostic Laboratory, Strasbourg University Hospital

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ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.993-58A>G rs74091614 0.03307
NM_133444.3(ZNF526):c.1280C>T (p.Ala427Val) rs144394848 0.00045
NM_006059.4(LAMC3):c.995G>A (p.Arg332His) rs149861552 0.00023
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) rs201246466 0.00013
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn) rs369376550 0.00010
NM_014927.5(CNKSR2):c.3065C>T (p.Ser1022Phe) rs144451192 0.00007
NM_201599.3(ZMYM3):c.3800G>A (p.Arg1267Gln) rs746982292 0.00006
NM_001378414.1(HDAC4):c.871G>A (p.Ala291Thr) rs374729768 0.00005
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter) rs781889971 0.00005
NM_001389.5(DSCAM):c.2807A>G (p.Lys936Arg) rs751623656 0.00004
NM_002578.5(PAK3):c.276+67C>T rs900570811 0.00003
NM_013275.6(ANKRD11):c.5150A>T (p.Glu1717Val) rs551558075 0.00003
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln) rs753387074 0.00003
NM_030632.3(ASXL3):c.4039G>A (p.Gly1347Arg) rs967367864 0.00003
NM_001378414.1(HDAC4):c.412C>T (p.Arg138Cys) rs745953691 0.00002
NM_019842.4(KCNQ5):c.508G>A (p.Val170Ile) rs771263285 0.00002
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093 0.00002
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln) rs201109190 0.00001
NM_001008537.3(NEXMIF):c.2812C>T (p.Leu938Phe) rs1297199556 0.00001
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443 0.00001
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877 0.00001
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser) rs782269425 0.00001
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly) rs200009780 0.00001
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile) rs2063927856 0.00001
NM_001374828.1(ARID1B):c.4610C>T (p.Pro1537Leu) rs530430137 0.00001
NM_002294.3(LAMP2):c.398-5T>C rs1460188868 0.00001
NM_002641.4(PIGA):c.716-9T>A rs1464500489 0.00001
NM_004268.5(MED17):c.1927A>G (p.Met643Val) rs761959231 0.00001
NM_004484.4(GPC3):c.496A>G (p.Met166Val) rs1556297827 0.00001
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln) rs754537871 0.00001
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys) rs762142487 0.00001
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly) rs760804604 0.00001
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) rs183018401 0.00001
NM_013275.6(ANKRD11):c.5575T>C (p.Ser1859Pro) rs1318992601 0.00001
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222 0.00001
NM_030632.3(ASXL3):c.6281G>A (p.Cys2094Tyr) rs1172659745 0.00001
NM_031407.7(HUWE1):c.1125G>T (p.Met375Ile) rs1043071474 0.00001
NM_031407.7(HUWE1):c.2615G>A (p.Arg872Gln) rs782162014 0.00001
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln) rs782315292 0.00001
NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met) rs1357978246 0.00001
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu) rs1057518569 0.00001
NM_000489.6(ATRX):c.2798C>A (p.Ser933Tyr) rs2071269170
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile) rs2090790316
NM_000719.7(CACNA1C):c.1481+1G>A rs778456186
NM_000719.7(CACNA1C):c.1A>C (p.Met1Leu) rs931964122
NM_000814.6(GABRB3):c.343C>T (p.Gln115Ter) rs1892478912
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000875.5(IGF1R):c.302C>T (p.Pro101Leu) rs2053900874
NM_001003694.2(BRPF1):c.3316C>G (p.Pro1106Ala) rs2077118005
NM_001029896.2(WDR45):c.1A>G (p.Met1Val) rs2065048490
NM_001029896.2(WDR45):c.695G>T (p.Arg232Leu) rs781978699
NM_001032221.6(STXBP1):c.238T>C (p.Ser80Pro) rs1840867221
NM_001039591.3(USP9X):c.1764-6T>G rs2062542737
NM_001039591.3(USP9X):c.224T>G (p.Leu75Trp) rs2062284547
NM_001039591.3(USP9X):c.2877+5G>A rs2062713669
NM_001040142.2(SCN2A):c.1094C>A (p.Thr365Lys) rs1697567984
NM_001040142.2(SCN2A):c.3440A>G (p.Asp1147Gly) rs1700658194
NM_001040142.2(SCN2A):c.4244T>C (p.Leu1415Pro) rs1701232405
NM_001080517.3(SETD5):c.1895G>T (p.Arg632Leu) rs772791035
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) rs1557178146
NM_001130438.3(SPTAN1):c.7305C>A (p.Tyr2435Ter) rs527570862
NM_001130438.3(SPTAN1):c.7307del (p.Gln2436fs) rs1860025750
NM_001134407.3(GRIN2A):c.1663G>T (p.Ala555Ser) rs2042547937
NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln)
NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr) rs1696670375
NM_001197104.2(KMT2A):c.9682C>T (p.Arg3228Cys) rs778675942
NM_001242896.3(DEPDC5):c.3185del (p.His1062fs) rs2092345844
NM_001242896.3(DEPDC5):c.3515C>T (p.Thr1172Ile) rs865860087
NM_001278116.2(L1CAM):c.3458-5T>G rs2064682754
NM_001282531.3(ADNP):c.2474G>A (p.Gly825Glu) rs1980852871
NM_001291415.2(KDM6A):c.1265C>T (p.Ala422Val) rs2044234734
NM_001303052.2(MYT1L):c.505G>A (p.Glu169Lys) rs2056816939
NM_001318510.2(ACSL4):c.-12-110T>C rs1924349135
NM_001330260.2(SCN8A):c.1236_1251del (p.Met412fs) rs1941768692
NM_001347721.2(DYRK1A):c.1357T>C (p.Tyr453His) rs2053566512
NM_001348323.3(TRIP12):c.2683C>T (p.Arg895Ter) rs1195592039
NM_001353921.2(ARHGEF9):c.1141G>T (p.Val381Phe) rs2048829571
NM_001353921.2(ARHGEF9):c.881G>A (p.Arg294His) rs2050116764
NM_001367721.1(CASK):c.1501A>G (p.Met501Val) rs2065513776
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val) rs2064797651
NM_001372044.2(SHANK3):c.2300+3G>C rs2083163077
NM_001374828.1(ARID1B):c.344C>G (p.Ala115Gly) rs935320680
NM_001376.5(DYNC1H1):c.10684T>A (p.Trp3562Arg) rs2048546391
NM_001376.5(DYNC1H1):c.11309T>C (p.Leu3770Pro) rs2048611654
NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser) rs2048637475
NM_001376.5(DYNC1H1):c.599T>C (p.Ile200Thr) rs2047842129
NM_001376.5(DYNC1H1):c.6151dup (p.Gln2051fs) rs2048240046
NM_001376.5(DYNC1H1):c.8684_8687del (p.Ala2895fs) rs2048454562
NM_001378120.1(MBD5):c.3079A>G (p.Thr1027Ala) rs1681239379
NM_001378120.1(MBD5):c.3987del (p.Ser1330fs) rs1681453811
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser) rs1680672685
NM_001379110.1(SLC9A6):c.1582-35del rs2071360131
NM_001389.5(DSCAM):c.1783G>C (p.Val595Leu) rs2074447466
NM_001389.5(DSCAM):c.2725_2731del (p.Phe909fs) rs2090903586
NM_001429.4(EP300):c.3901T>G (p.Phe1301Val) rs766262045
NM_001493.3(GDI1):c.578G>T (p.Arg193Leu) rs782755945
NM_001830.4(CLCN4):c.820G>A (p.Gly274Ser) rs1924398104
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) rs1064796023
NM_002578.5(PAK3):c.276+4A>G rs1569398769
NM_002578.5(PAK3):c.379G>T (p.Asp127Tyr) rs2093969404
NM_002834.5(PTPN11):c.1040A>G (p.Gln347Arg) rs2038533815
NM_003036.4(SKI):c.1351dup (p.Gln451fs) rs1640495100
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys) rs1586657809
NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs) rs1823357335
NM_003073.5(SMARCB1):c.31G>A (p.Gly11Arg) rs1555875308
NM_003079.5(SMARCE1):c.774del (p.Lys258fs) rs2037096557
NM_003482.4(KMT2D):c.14969T>C (p.Leu4990Pro) rs1942629941
NM_003482.4(KMT2D):c.4128_4129delinsAA (p.Met1376_Gln1377delinsIleLys) rs1937708623
NM_003590.5(CUL3):c.1445_1446del (p.Thr482fs) rs1692450883
NM_003590.5(CUL3):c.602_603dup (p.Glu202fs) rs1692922192
NM_003922.4(HERC1):c.2044C>T (p.His682Tyr) rs2075171059
NM_003922.4(HERC1):c.7561G>A (p.Ala2521Thr) rs963612854
NM_004006.3(DMD):c.10839_10840del (p.Pro3614fs) rs2036696920
NM_004187.5(KDM5C):c.1786A>C (p.Thr596Pro) rs2073152759
NM_004187.5(KDM5C):c.3299A>G (p.Glu1100Gly) rs1934748124
NM_004187.5(KDM5C):c.47T>G (p.Val16Gly) rs2073996588
NM_004463.3(FGD1):c.515G>A (p.Arg172Gln) rs1342329216
NM_004484.4(GPC3):c.881A>G (p.Lys294Arg) rs2071691139
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg) rs1825159081
NM_004606.5(TAF1):c.2993G>T (p.Arg998Leu) rs773557452
NM_004859.4(CLTC):c.4366C>T (p.Gln1456Ter) rs2033126192
NM_005045.4(RELN):c.10306A>G (p.Met3436Val) rs1257276738
NM_005097.4(LGI1):c.608C>A (p.Pro203His) rs2059948035
NM_005120.3(MED12):c.5915C>T (p.Pro1972Leu) rs2092336469
NM_005120.3(MED12):c.647G>T (p.Gly216Val) rs2092288219
NM_005334.3(HCFC1):c.958C>T (p.Arg320Cys) rs2065418213
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
NM_005458.8(GABBR2):c.1649_1658del (p.Glu550fs) rs1832059147
NM_005458.8(GABBR2):c.324C>A (p.Cys108Ter) rs145095054
NM_005859.5(PURA):c.955G>C (p.Gly319Arg) rs1763059359
NM_005862.3(STAG1):c.1736dup (p.Ser580fs) rs1553718528
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006279.5(ST3GAL3):c.557+5G>A rs2077864900
NM_006279.5(ST3GAL3):c.595G>A (p.Val199Met) rs2077936349
NM_006565.4(CTCF):c.1057T>G (p.Cys353Gly) rs2052138115
NM_006593.4(TBR1):c.173G>T (p.Gly58Val) rs1684126194
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006772.3(SYNGAP1):c.1760G>C (p.Arg587Thr) rs1761010851
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006950.3(SYN1):c.1184T>C (p.Ile395Thr) rs2057773960
NM_007118.4(TRIO):c.1871C>T (p.Ala624Val) rs962795710
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2875-10C>G rs1744811214
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.6877GGC[8] (p.Gly2297_Gly2298dup) rs749785358
NM_007325.5(GRIA3):c.1474G>A (p.Gly492Ser) rs2045463858
NM_007327.4(GRIN1):c.2329del (p.Leu777fs) rs1833664394
NM_007327.4(GRIN1):c.2444-2A>G rs1833698471
NM_007327.4(GRIN1):c.398T>G (p.Ile133Ser) rs2131216957
NM_012280.4(FTSJ1):c.469-33_469-14del rs2061567793
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter) rs2058867660
NM_012471.3(TRPC5):c.523C>T (p.Arg175Cys) rs1925852905
NM_013275.6(ANKRD11):c.4112C>T (p.Ala1371Val) rs2034337101
NM_013275.6(ANKRD11):c.87+4del rs2036995523
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr) rs761684414
NM_014927.5(CNKSR2):c.958-1G>A rs2091840428
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs) rs1775494843
NM_015021.3(ZNF292):c.7304_7308del (p.Val2435fs) rs1775548411
NM_015080.4(NRXN2):c.4845dup (p.Gly1616fs) rs2039811849
NM_015080.4(NRXN2):c.751C>T (p.Pro251Ser) rs2054009025
NM_015335.5(MED13L):c.1009+5G>C rs1879910076
NM_015443.4(KANSL1):c.979A>T (p.Lys327Ter) rs2046265286
NM_015570.4(AUTS2):c.1482dup (p.Arg495fs) rs1789924859
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_018486.3(HDAC8):c.463C>T (p.Leu155Phe) rs2048985556
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser) rs751569402
NM_021072.4(HCN1):c.2260C>T (p.Gln754Ter) rs1744762137
NM_021072.4(HCN1):c.851T>C (p.Ile284Thr) rs1741171789
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_024757.5(EHMT1):c.1237G>A (p.Glu413Lys) rs1949039443
NM_031407.7(HUWE1):c.10610C>A (p.Pro3537His) rs1309601872
NM_031407.7(HUWE1):c.3845G>A (p.Arg1282Gln) rs2064220205
NM_031407.7(HUWE1):c.6200C>T (p.Pro2067Leu) rs2062957071
NM_031407.7(HUWE1):c.6751G>A (p.Glu2251Lys) rs2062464352
NM_031407.7(HUWE1):c.7945A>G (p.Thr2649Ala) rs2062162493
NM_031844.3(HNRNPU):c.1016A>C (p.Lys339Thr) rs1680794191
NM_032539.5(SLITRK2):c.1665G>C (p.Glu555Asp) rs782671051
NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys) rs2124163845
NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp) rs2056158006
NM_130839.5(UBE3A):c.62+2dup rs2088279281
NM_133433.4(NIPBL):c.841C>G (p.Pro281Ala) rs1742903184
NM_170606.3(KMT2C):c.11683A>G (p.Ser3895Gly) rs2092042122
NM_181303.2(NLGN3):c.163C>G (p.Arg55Gly) rs759137635
NM_181332.3(NLGN4X):c.1879C>T (p.Arg627Ter) rs1226379186
NM_182641.4(BPTF):c.3232C>T (p.Arg1078Ter) rs2062624324
NM_198904.4(GABRG2):c.926T>C (p.Ile309Thr) rs1765172003

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