ClinVar Miner

List of variants reported as likely benign for Autism spectrum disorder

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.*4377A>T rs513996 0.96749
NM_012309.5(SHANK2):c.-36A>G rs3020047 0.60032
NM_003097.6(SNRPN):c.-89T>C rs705 0.53733
NM_012309.5(SHANK2):c.*2583T>C rs55678639 0.27352
NM_022807.5(SNRPN):c.-672T>C rs7170796 0.14308
NM_022807.5(SNRPN):c.-579+5G>A rs56684653 0.13434
NM_012309.5(SHANK2):c.385G>A (p.Val129Met) rs73521173 0.05277
NM_012309.5(SHANK2):c.*4102C>G rs61885874 0.03443
NM_012309.5(SHANK2):c.336C>T (p.Asp112=) rs76014490 0.03111
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) rs7926203 0.02486
NM_012309.5(SHANK2):c.483+14G>A rs75938961 0.02166
NM_003097.6(SNRPN):c.-39G>A rs75184959 0.01903
NM_022807.5(SNRPN):c.-569C>T rs80135925 0.01706
NM_012309.5(SHANK2):c.483+13C>T rs117706585 0.00882
NM_012309.5(SHANK2):c.*1597T>G rs2154625 0.00746
NM_016032.4(ZDHHC9):c.881+3G>A rs775743190 0.00004
NM_006015.6(ARID1A):c.500C>T (p.Ala167Val) rs1327610437 0.00003
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr) rs1006465697 0.00001
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu) rs1170509653 0.00001
GRCh38/hg38 10p11.21(chr10:34891282-35211554)
GRCh38/hg38 4q35.2(chr4:187200844-188870692)
GRCh38/hg38 7p21.3(chr7:12875659-13231798)
GRCh38/hg38 7q35(chr7:146320644-146339450)
NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)
NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000719.7(CACNA1C):c.1480G>T (p.Ala494Ser)
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) rs786205755
NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)
NM_000815.5(GABRD):c.370A>G (p.Thr124Ala)
NM_000827.4(GRIA1):c.1444G>T (p.Val482Phe)
NM_000829.4(GRIA4):c.83A>C (p.Gln28Pro)
NM_000834.5(GRIN2B):c.2431A>T (p.Ser811Cys)
NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)
NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)
NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)
NM_001079843.3(CASZ1):c.2161A>G (p.Ser721Gly)
NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp)
NM_001127715.4(STXBP5):c.2498_2499insT (p.Gly834fs)
NM_001128840.3(CACNA1D):c.2777T>C (p.Phe926Ser)
NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)
NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)
NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)
NM_001148.6(ANK2):c.29G>A (p.Ser10Asn)
NM_001148.6(ANK2):c.3580G>T (p.Val1194Leu)
NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)
NM_001170629.2(CHD8):c.2365-10T>G
NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)
NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)
NM_001184880.2(PCDH19):c.1516G>A (p.Val506Ile)
NM_001190737.2(NFIB):c.254G>T (p.Arg85Leu)
NM_001190737.2(NFIB):c.769G>C (p.Val257Leu)
NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)
NM_001220.5(CAMK2B):c.767A>G (p.Asn256Ser)
NM_001271.4(CHD2):c.5474T>G (p.Val1825Gly)
NM_001282680.3(GAPVD1):c.2561del (p.Pro854fs)
NM_001303052.2(MYT1L):c.1029G>C (p.Glu343Asp)
NM_001303052.2(MYT1L):c.1181G>C (p.Arg394Thr)
NM_001306215.2(ZNF827):c.706C>T (p.Arg236Ter)
NM_001330078.2(NRXN1):c.1832A>T (p.Asp611Val)
NM_001330195.2(NRXN3):c.4097dup (p.Ser1367fs)
NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln) rs2037908174
NM_001350605.2(SRSF11):c.271G>C (p.Val91Leu)
NM_001352027.3(PHF21A):c.1493G>A (p.Ser498Asn)
NM_001370348.2(PHF3):c.1592A>G (p.Asn531Ser)
NM_001371928.1(AHDC1):c.1322C>T (p.Pro441Leu)
NM_001375380.1(EBF3):c.146T>C (p.Leu49Pro)
NM_001376.5(DYNC1H1):c.10637A>G (p.Asp3546Gly)
NM_001376.5(DYNC1H1):c.6512A>T (p.His2171Leu)
NM_001378418.1(TCF20):c.3424G>A (p.Gly1142Ser)
NM_001378418.1(TCF20):c.5555T>G (p.Phe1852Cys)
NM_001385012.1(NBEA):c.1711C>G (p.Leu571Val)
NM_001386298.1(CIC):c.1975C>T (p.Arg659Cys)
NM_001386298.1(CIC):c.2131_2150delinsACGAT (p.Pro711_Glu717delinsThrMet)
NM_001386298.1(CIC):c.7018A>C (p.Lys2340Gln)
NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)
NM_001394998.1(TANC2):c.3073G>A (p.Gly1025Arg)
NM_001394998.1(TANC2):c.3866T>C (p.Val1289Ala)
NM_001394998.1(TANC2):c.4328G>A (p.Arg1443His)
NM_001394998.1(TANC2):c.5596T>G (p.Phe1866Val)
NM_001407.3(CELSR3):c.4399+1G>C
NM_002246.3(KCNK3):c.460G>A (p.Val154Met)
NM_002246.3(KCNK3):c.632A>G (p.Asp211Gly)
NM_003036.4(SKI):c.898C>T (p.Leu300Phe) rs1569660908
NM_003070.5(SMARCA2):c.67C>T (p.Pro23Ser)
NM_003073.5(SMARCB1):c.538G>C (p.Ala180Pro)
NM_003482.4(KMT2D):c.15047T>C (p.Leu5016Pro)
NM_003482.4(KMT2D):c.16146C>G (p.His5382Gln)
NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu)
NM_003482.4(KMT2D):c.417C>G (p.His139Gln)
NM_003628.6(PKP4):c.1784G>A (p.Arg595Gln)
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly)
NM_004958.4(MTOR):c.1111G>T (p.Asp371Tyr)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_005121.3(MED13):c.2645T>C (p.Ile882Thr)
NM_005121.3(MED13):c.540T>G (p.Ile180Met)
NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)
NM_005392.4(PHF2):c.3142G>A (p.Val1048Ile)
NM_005898.5(CAPRIN1):c.1084C>T (p.Leu362Phe)
NM_006180.6(NTRK2):c.479A>G (p.Lys160Arg)
NM_006180.6(NTRK2):c.91G>C (p.Ala31Pro)
NM_006186.4(NR4A2):c.1566G>T (p.Lys522Asn)
NM_006268.5(DPF2):c.8C>G (p.Ala3Gly)
NM_006618.5(KDM5B):c.563G>A (p.Gly188Glu)
NM_006734.4(HIVEP2):c.5693C>G (p.Ser1898Cys)
NM_006885.4(ZFHX3):c.2037C>G (p.His679Gln)
NM_006885.4(ZFHX3):c.7090C>G (p.Gln2364Glu)
NM_006940.6(SOX5):c.1628A>G (p.Tyr543Cys)
NM_007118.4(TRIO):c.5711C>T (p.Pro1904Leu)
NM_007118.4(TRIO):c.7048C>A (p.Pro2350Thr)
NM_007327.4(GRIN1):c.1540G>C (p.Val514Leu)
NM_012309.5(SHANK2):c.3382G>C (p.Glu1128Gln)
NM_013275.6(ANKRD11):c.5044G>T (p.Gly1682Cys)
NM_013275.6(ANKRD11):c.5491G>T (p.Asp1831Tyr)
NM_014159.7(SETD2):c.170A>G (p.Lys57Arg)
NM_014159.7(SETD2):c.4464T>G (p.Asn1488Lys)
NM_014159.7(SETD2):c.6011A>G (p.Asp2004Gly)
NM_014159.7(SETD2):c.7004A>G (p.Gln2335Arg)
NM_014423.4(AFF4):c.2638-4_2638del
NM_014489.4(PGAP2):c.112A>G (p.Ile38Val)
NM_014489.4(PGAP2):c.368C>T (p.Ser123Leu)
NM_014516.4(CNOT3):c.483+5G>A
NM_014742.4(TM9SF4):c.1411G>A (p.Gly471Ser)
NM_014892.5(SCAF8):c.3200_3204del (p.Ile1067fs)
NM_014991.6(WDFY3):c.8984C>G (p.Ser2995Cys)
NM_015001.3(SPEN):c.4919C>T (p.Pro1640Leu)
NM_015001.3(SPEN):c.5780C>A (p.Pro1927Gln)
NM_015001.3(SPEN):c.9811A>G (p.Thr3271Ala)
NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)
NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)
NM_015267.4(CUX2):c.2291C>T (p.Pro764Leu)
NM_015329.4(MAU2):c.744C>G (p.Ser248Arg)
NM_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
NM_015570.4(AUTS2):c.1960G>A (p.Val654Ile)
NM_015570.4(AUTS2):c.2309C>T (p.Thr770Ile)
NM_015570.4(AUTS2):c.2887G>C (p.Glu963Gln)
NM_015570.4(AUTS2):c.3062C>T (p.Ser1021Leu)
NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn)
NM_017934.7(PHIP):c.589C>T (p.Arg197Trp)
NM_018489.3(ASH1L):c.6218G>A (p.Arg2073His)
NM_018489.3(ASH1L):c.731C>T (p.Thr244Ile)
NM_018489.3(ASH1L):c.7622C>T (p.Ala2541Val)
NM_018489.3(ASH1L):c.8771T>C (p.Leu2924Pro)
NM_019040.5(ELP4):c.1144-19903_1144-19902del
NM_020134.4(DPYSL5):c.600+2C>T
NM_020338.4(ZMIZ1):c.2131C>T (p.Arg711Trp)
NM_020774.4(MIB1):c.2212-3C>G
NM_021008.4(DEAF1):c.838A>G (p.Thr280Ala)
NM_022552.5(DNMT3A):c.1280A>T (p.Glu427Val)
NM_022817.3(PER2):c.2399A>G (p.Lys800Arg)
NM_022817.3(PER2):c.958G>C (p.Gly320Arg)
NM_030632.3(ASXL3):c.5221T>G (p.Ser1741Ala)
NM_030632.3(ASXL3):c.6395A>C (p.Lys2132Thr)
NM_031844.3(HNRNPU):c.1357T>G (p.Cys453Gly)
NM_052867.4(NALCN):c.19A>T (p.Ser7Cys)
NM_152641.4(ARID2):c.4693G>A (p.Val1565Ile)
NM_170606.3(KMT2C):c.11670+1G>C
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)
NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)
NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)
NM_170744.5(UNC5B):c.701G>A (p.Arg234His)
NM_172107.4(KCNQ2):c.112G>C (p.Gly38Arg)
NM_172107.4(KCNQ2):c.1189C>T (p.Leu397Phe)
NM_173602.3(DIP2B):c.3893T>G (p.Phe1298Cys)
NM_182931.3(KMT2E):c.1378G>T (p.Ala460Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.