List of variants reported as pathogenic for Autism, susceptibility to, 17

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_012309.5(SHANK2):c.1896dup (p.Asp633fs)	rs1555013332
NM_012309.5(SHANK2):c.2439+1G>A	rs2058899044
NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter)	rs2058867660
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter)	rs2135739220
NM_012309.5(SHANK2):c.4604del (p.Asp1535fs)
NM_012309.5(SHANK2):c.4635_4636delinsTAT (p.Val1546fs)

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