ClinVar Miner

List of variants studied for Autism spectrum disorder by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_004104.5(FASN):c.2719G>A (p.Val907Ile) rs150461663 0.00009
NM_016252.4(BIRC6):c.3931A>G (p.Ile1311Val) rs781761645 0.00006
NM_152744.4(SDK1):c.6016G>A (p.Glu2006Lys) rs779551787 0.00005
NM_001329998.2(TRANK1):c.2833G>A (p.Val945Ile) rs368536894 0.00004
NM_001394998.1(TANC2):c.2486G>A (p.Arg829His) rs775421108 0.00004
NM_015324.4(RRP8):c.803G>A (p.Arg268His) rs759913983 0.00003
NM_020759.3(STARD9):c.4802G>A (p.Arg1601Gln) rs1380480578 0.00003
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001024843.2(TNRC6B):c.46-2A>G rs146996627 0.00001
NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys) rs775502608 0.00001
NM_001365.5(DLG4):c.20-1G>C rs759282824 0.00001
NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val) rs1416564508 0.00001
NM_001394998.1(TANC2):c.3104G>A (p.Arg1035Gln) rs374131489 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002291.3(LAMB1):c.144del (p.Lys49fs) rs1471515174 0.00001
NM_003246.4(THBS1):c.2875C>T (p.Arg959Ter) rs796320749 0.00001
NM_003320.5(TUB):c.139G>A (p.Gly47Ser) rs769088023 0.00001
NM_007050.6(PTPRT):c.548G>A (p.Arg183Gln) rs768757373 0.00001
NM_019040.5(ELP4):c.284del (p.Ser95fs) rs754625061 0.00001
NM_032531.4(KIRREL3):c.1985G>A (p.Arg662His) rs773312950 0.00001
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter) rs1641565884
NM_001093.4(ACACB):c.1963A>G (p.Ser655Gly) rs2044635183
NM_001143831.3(GRM5):c.523A>G (p.Thr175Ala) rs1941663554
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe) rs1692190479
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs) rs1980878343
NM_001329998.2(TRANK1):c.6458C>A (p.Thr2153Lys) rs2078720428
NM_001374736.1(DST):c.89_97dup (p.Ala30_Ile32dup) rs1824238311
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001384609.1(SLITRK5):c.175G>T (p.Gly59Cys) rs368879058
NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser) rs1473886214
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) rs2048464266
NM_001394998.1(TANC2):c.5318A>G (p.His1773Arg) rs2049010059
NM_001394998.1(TANC2):c.769+1G>A rs1419550439
NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr) rs1662975878
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002573.4(PAFAH1B3):c.571T>C (p.Tyr191His) rs2038538013
NM_003286.4(TOP1):c.1217A>T (p.His406Leu) rs2034059953
NM_003906.5(MCM3AP):c.276del (p.Phe93fs) rs2081390223
NM_004174.4(SLC9A3):c.914C>T (p.Ser305Leu) rs1456737648
NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe) rs1983951845
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) rs1686821540
NM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu) rs1805615555
NM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser) rs1808543772
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr) rs1939401816
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) rs1749810683
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015155.3(LARP4B):c.801_802del (p.Cys267_Glu268delinsTer) rs1832871459
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_015542.4(UPF2):c.91G>T (p.Val31Leu) rs1834606114
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_019108.4(SMG9):c.947A>G (p.His316Arg) rs372754806
NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg) rs1254821821
NM_024490.4(ATP10A):c.2397C>A (p.Tyr799Ter) rs753168128
NM_025137.4(SPG11):c.4955C>G (p.Thr1652Arg) rs2082749902
NM_032776.3(JMJD1C):c.667dup (p.Met223fs) rs1848103102
NM_033225.6(CSMD1):c.2381A>C (p.His794Pro) rs1811902928
NM_052867.4(NALCN):c.682C>T (p.His228Tyr) rs2045687348

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