ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) rs757972971 0.00001
NM_016188.5(ACTL6B):c.1177G>A (p.Gly393Arg) rs986702153 0.00001
NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) rs2143738378
NM_016188.5(ACTL6B):c.1249G>T (p.Gly417Trp) rs746964903
NM_016188.5(ACTL6B):c.460C>T (p.Leu154Phe) rs2131335751
NM_016188.5(ACTL6B):c.465del (p.Ala156fs) rs2131335747
NM_016188.5(ACTL6B):c.523A>C (p.Thr175Pro) rs2131334872
NM_016188.5(ACTL6B):c.892C>T (p.Arg298Ter) rs2131333638

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