ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_001024843.2(TNRC6B):c.46-2A>G
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)
NM_001093.4(ACACB):c.1963A>G (p.Ser655Gly)
NM_001143831.3(GRM5):c.523A>G (p.Thr175Ala)
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs)
NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys)
NM_001329998.2(TRANK1):c.2833G>A (p.Val945Ile)
NM_001329998.2(TRANK1):c.6458C>A (p.Thr2153Lys)
NM_001365.4(DLG4):c.20-1G>C
NM_001374736.1(DST):c.89_97dup (p.Ala30_Ile32dup)
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001378125.1(BIRC6):c.3889A>G (p.Ile1297Val)
NM_001378457.1(DMXL2):c.6137C>T (p.Ala2046Val)
NM_001384609.1(SLITRK5):c.175G>T (p.Gly59Cys)
NM_001384609.1(SLITRK5):c.976C>T (p.Pro326Ser)
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471
NM_002252.5(KCNS3):c.601G>A (p.Ala201Thr)
NM_002291.3(LAMB1):c.144del (p.Lys49fs)
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002573.4(PAFAH1B3):c.571T>C (p.Tyr191His)
NM_003246.4(THBS1):c.2875C>T (p.Arg959Ter)
NM_003286.4(TOP1):c.1217A>T (p.His406Leu)
NM_003320.5(TUB):c.139G>A (p.Gly47Ser)
NM_003906.5(MCM3AP):c.276del (p.Phe93fs)
NM_004104.5(FASN):c.2719G>A (p.Val907Ile)
NM_004174.4(SLC9A3):c.914C>T (p.Ser305Leu)
NM_004535.3(MYT1):c.2138C>T (p.Ser713Phe)
NM_005445.3(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs)
NM_006372.5(SYNCRIP):c.1573_1574delinsTT (p.Gln525Leu)
NM_006372.5(SYNCRIP):c.629T>C (p.Phe210Ser)
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_007050.6(PTPRT):c.548G>A (p.Arg183Gln)
NM_014718.4(CLSTN3):c.599T>C (p.Ile200Thr)
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)
NM_015155.3(LARP4B):c.801_802del (p.Cys267_Glu268delinsTer)
NM_015324.4(RRP8):c.803G>A (p.Arg268His)
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)
NM_015542.4(UPF2):c.91G>T (p.Val31Leu)
NM_017519.2(ARID1B):c.2653C>T (p.Arg885Ter) rs794727977
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_019040.5(ELP4):c.284del (p.Ser95fs)
NM_019108.4(SMG9):c.947A>G (p.His316Arg)
NM_020759.3(STARD9):c.4802G>A (p.Arg1601Gln)
NM_021135.6(RPS6KA2):c.1696G>A (p.Gly566Arg)
NM_024490.3(ATP10A):c.2397C>A (p.Tyr799Ter)
NM_025137.4(SPG11):c.4955C>G (p.Thr1652Arg)
NM_025185.4(TANC2):c.1219+1G>A
NM_025185.4(TANC2):c.2264G>A (p.Arg755His)
NM_025185.4(TANC2):c.2882G>A (p.Arg961Gln)
NM_025185.4(TANC2):c.3196C>T (p.Arg1066Ter)
NM_025185.4(TANC2):c.5066A>G (p.His1689Arg)
NM_025185.4(TANC2):c.547+1G>A
NM_032531.4(KIRREL3):c.1985G>A (p.Arg662His)
NM_032776.3(JMJD1C):c.667dup (p.Met223fs)
NM_033225.6(CSMD1):c.2381A>C (p.His794Pro)
NM_052867.4(NALCN):c.682C>T (p.His228Tyr)
NM_152744.4(SDK1):c.6016G>A (p.Glu2006Lys)

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