ClinVar Miner

List of variants reported as likely pathogenic for Autism spectrum disorder by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 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_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_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter) rs1554301257
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001394998.1(TANC2):c.1441+1G>A rs2045256930
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter) rs2048464266
NM_001394998.1(TANC2):c.769+1G>A rs1419550439
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys) rs760111391
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs) rs1686821540
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter) rs1749810683
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter) rs2011568558
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104

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