ClinVar Miner

List of variants studied for Autism, susceptibility to, 17 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.2308+1G>A rs2135811944
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)

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