ClinVar Miner

List of variants reported as pathogenic by Molecular Genetics Lab, CHRU Brest

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ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
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_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_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NC_000019.10:g.12536733_12537889del
NM_000179.3(MSH6):c.2079del (p.Lys693fs) rs267608083
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000492.4(CFTR):c.445G>A (p.Gly149Arg) rs397508718
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_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter) rs886041382
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001038.6(SCNN1A):c.1361-3C>G
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) rs786203307
NM_001079872.2(CUL4B):c.516del (p.Lys172fs)
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
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.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001197104.2(KMT2A):c.4643_4646dup (p.Trp1549Ter)
NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)
NM_001303052.2(MYT1L):c.982G>T (p.Glu328Ter)
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
NM_001367873.1(SOX6):c.277C>T (p.Arg93Ter) rs376018780
NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs) rs606231267
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_001378418.1(TCF20):c.3244C>T (p.Gln1082Ter)
NM_001378418.1(TCF20):c.3504del (p.Asp1168fs)
NM_001615.4(ACTG2):c.532C>A (p.Arg178Ser)
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_003106.4(SOX2):c.554del (p.Gly185fs)
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_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005859.5(PURA):c.331del (p.Arg111fs)
NM_005909.5(MAP1B):c.881del (p.Phe294fs)
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
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.298+2T>C
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys) rs886041001
NM_006662.3(SRCAP):c.1319del
NM_006734.4(HIVEP2):c.5653A>T (p.Lys1885Ter)
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
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_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_015570.4(AUTS2):c.1902+1G>A
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter) rs1085307480
NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)
NM_022455.5(NSD1):c.4196del (p.Asn1399fs)
NM_022893.4(BCL11A):c.1417G>T (p.Glu473Ter)
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_030632.3(ASXL3):c.1498G>T (p.Glu500Ter)
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
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_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913

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