ClinVar Miner

List of variants reported as pathogenic by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001395891.1(CLASP1):c.196-605C>T rs188343279 0.00038
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_001395891.1(CLASP1):c.196-591C>T rs756026847 0.00013
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018249.6(CDK5RAP2):c.4005-1G>A rs587783387 0.00005
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs) rs724159996 0.00003
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs1453839157 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter) rs780902942 0.00001
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) rs1213710245
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001194998.2(CEP152):c.2920C>T (p.Gln974Ter)
NM_001194998.2(CEP152):c.5070_5073del (p.Ile1691fs)
NM_001197104.2(KMT2A):c.11110C>T (p.Arg3704Ter) rs1555050211
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter) rs1555039343
NM_001197104.2(KMT2A):c.4696+1G>A rs1057519407
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001395891.1(CLASP1):c.196-604C>T rs181195449
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) rs730882121
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.308+1G>A
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His) rs137853050
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)
NM_014845.6(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.3741+1G>C
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8702del (p.His2901fs)
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)

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