ClinVar Miner

List of variants reported as pathogenic for Autism spectrum disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter) rs760186894 0.00001
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000834.5(GRIN2B):c.23_24insC (p.Ser9fs) rs2497984939
NM_001040142.2(SCN2A):c.1800del (p.Phe601fs) rs2467933702
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter) rs2505933210
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter) rs752040819
NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter) rs2517988934
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs) rs2502001713
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs) rs2501913432
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter) rs1555314944
NM_001271.4(CHD2):c.995_999del (p.Val332fs) rs2505447123
NM_001291415.2(KDM6A):c.3190dup (p.Trp1064fs) rs2523162465
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs) rs2466868754
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs) rs774889610
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs) rs2083275928
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs) rs762292772
NM_001375380.1(EBF3):c.232C>T (p.Gln78Ter) rs2493681198
NM_001375765.1(GIGYF1):c.3106T>G (p.Ter1036Gly) rs1163941038
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter) rs2518222528
NM_001385012.1(NBEA):c.5206dup (p.Ser1736fs) rs2504151015
NM_002585.4(PBX1):c.550C>T (p.Arg184Ter) rs1553248081
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_024496.4(IRF2BPL):c.1846del (p.Ala616fs) rs2503074890
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter) rs552703360
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs) rs2510928397
NM_138576.4(BCL11B):c.784_820del (p.Arg262fs) rs2503652316
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242

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