ClinVar Miner

List of variants reported by Molecular Genetics Lab, CHRU Brest

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ClinVar version:
Total variants: 221
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly) rs79909102 0.00061
NM_003737.4(DCHS1):c.8302C>T (p.Arg2768Cys) rs368211314 0.00019
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter) rs141263564 0.00006
NM_052988.5(CDK10):c.609-1G>A rs767176610 0.00004
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587 0.00001
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln) rs1429234959 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=) rs368497893 0.00001
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp) rs587784350 0.00001
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540 0.00001
NM_020987.5(ANK3):c.7987G>A (p.Glu2663Lys) rs369092362 0.00001
NC_000012.11:g.52199766_52388207del
NC_000019.10:g.12536733_12537889del
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000240.4(MAOA):c.796-10T>C
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000291.4(PGK1):c.1114G>A (p.Gly372Ser) rs727504084
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg) rs397508718
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.4208C>G (p.Ser1403Cys)
NM_000875.5(IGF1R):c.3178_3186+7del
NM_000875.5(IGF1R):c.926C>T (p.Ser309Leu)
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)
NM_001009999.3(KDM1A):c.1747G>C (p.Glu583Gln)
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001035.3(RYR2):c.8161A>C (p.Ile2721Leu)
NM_001038.6(SCNN1A):c.1361-3C>G
NM_001040142.2(SCN2A):c.4309-2A>G
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001079872.2(CUL4B):c.516del (p.Lys172fs)
NM_001080.3(ALDH5A1):c.305_307dup (p.Val102_Arg103insLeu)
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
NM_001080517.3(SETD5):c.1921del (p.Ala641fs)
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001145358.2(SIN3A):c.1526+1G>T
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)
NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001291303.3(FAT4):c.9517T>G (p.Trp3173Gly)
NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg) rs1330054460
NM_001303052.2(MYT1L):c.982G>T (p.Glu328Ter)
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001348323.3(TRIP12):c.4861A>C (p.Thr1621Pro)
NM_001349338.3(FOXP1):c.1429-3C>G
NM_001349338.3(FOXP1):c.1722+5G>C
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter) rs886041422
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367873.1(SOX6):c.277C>T (p.Arg93Ter) rs376018780
NM_001368397.1(FRMPD4):c.857G>A (p.Arg286Gln) rs2060107292
NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs) rs606231267
NM_001370100.5(ZMYND11):c.788_791del (p.Tyr263fs)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001371928.1(AHDC1):c.2268del (p.Ser757fs)
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter)
NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs) rs2146832070
NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
NM_001375380.1(EBF3):c.663_685del (p.Asp222fs)
NM_001375524.1(TRRAP):c.2622+1G>A
NM_001378418.1(TCF20):c.3244C>T (p.Gln1082Ter)
NM_001378418.1(TCF20):c.3504del (p.Asp1168fs)
NM_001386298.1(CIC):c.4665_4666del (p.Arg1555fs)
NM_001386298.1(CIC):c.632G>A (p.Arg211His)
NM_001394998.1(TANC2):c.1123_1124del (p.Ser375fs)
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001615.4(ACTG2):c.532C>A (p.Arg178Ser)
NM_001658.4(ARF1):c.238C>T (p.His80Tyr)
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_002055.5(GFAP):c.227T>C (p.Leu76Pro)
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_003038.5(SLC1A4):c.344G>A (p.Gly115Asp)
NM_003106.4(SOX2):c.554del (p.Gly185fs)
NM_003179.3(SYP):c.615+2T>C
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln) rs200958264
NM_003282.4(TNNI2):c.454-2A>G
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) rs1565756115
NM_003482.4(KMT2D):c.7985del (p.Pro2662fs)
NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)
NM_004068.4(AP2M1):c.1087G>C (p.Glu363Gln)
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804
NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
NM_004586.3(RPS6KA3):c.1148G>C (p.Arg383Pro)
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005639.3(SYT1):c.928G>A (p.Asp310Asn) rs2136007608
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
NM_005859.5(PURA):c.331del (p.Arg111fs)
NM_005909.5(MAP1B):c.881del (p.Phe294fs)
NM_006009.4(TUBA1A):c.52A>T (p.Asn18Tyr)
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter) rs2124789497
NM_006268.5(DPF2):c.1037A>G (p.Asp346Gly) rs1555032044
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)
NM_006662.3(SRCAP):c.1319del
NM_006734.4(HIVEP2):c.2893C>T (p.Arg965Cys)
NM_006734.4(HIVEP2):c.5653A>T (p.Lys1885Ter)
NM_006766.5(KAT6A):c.1481A>G (p.Gln494Arg)
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_007118.4(TRIO):c.968A>G (p.Gln323Arg) rs777932649
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly)
NM_007363.5(NONO):c.809G>T (p.Arg270Leu)
NM_012309.5(SHANK2):c.162del (p.Asn55fs)
NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)
NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)
NM_013275.6(ANKRD11):c.6748_6757del (p.Pro2250fs)
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) rs121908377
NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)
NM_015001.3(SPEN):c.6226_6227del (p.Lys2076fs) rs2148741011
NM_015015.3(KDM4B):c.1858_1861dup (p.Arg621fs)
NM_015100.4(POGZ):c.1673dup (p.Thr559fs)
NM_015100.4(POGZ):c.3098_3101del (p.Glu1033fs)
NM_015100.4(POGZ):c.78_80delinsC (p.Glu26fs)
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn)
NM_015570.4(AUTS2):c.1902+1G>A
NM_015910.7(WDPCP):c.1187G>T (p.Ser396Ile)
NM_015910.7(WDPCP):c.395G>T (p.Gly132Val)
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter) rs1085307480
NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)
NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)
NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)
NM_018486.3(HDAC8):c.164G>T (p.Arg55Met)
NM_018489.3(ASH1L):c.8342G>A (p.Arg2781Gln)
NM_020922.5(WNK3):c.322_323del (p.Gln108fs)
NM_020928.2(ZSWIM6):c.1259del (p.Asp420fs)
NM_021120.4(DLG3):c.1972+1G>A
NM_022455.5(NSD1):c.4196del (p.Asn1399fs)
NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)
NM_024665.7(TBL1XR1):c.699_700delinsTT (p.Trp233_Asn234delinsCysTyr)
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_030632.3(ASXL3):c.1191_1192del (p.Gln397fs)
NM_030632.3(ASXL3):c.1498G>T (p.Glu500Ter)
NM_030632.3(ASXL3):c.2398C>T (p.Gln800Ter)
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys) rs2148314338
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)
NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)
NM_032590.5(KDM2B):c.1847G>A (p.Cys616Tyr)
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)
NM_078629.4(MSL3):c.221G>C (p.Arg74Pro)
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg)
NM_134261.3(RORA):c.499C>T (p.Gln167Ter)
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_170606.3(KMT2C):c.8782G>A (p.Asp2928Asn)
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
NM_178012.5(TUBB2B):c.632G>A (p.Cys211Tyr)
NM_182641.4(BPTF):c.2812+3A>T
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer) rs2108622234
NM_199334.5(THRA):c.896T>C (p.Ile299Thr)
NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys) rs879255361
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913

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