ClinVar Miner

List of variants in gene SHANK2 reported by Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.1197G>A (p.Ala399=) rs11237599 0.15569
NM_012309.5(SHANK2):c.1706G>A (p.Arg569His) rs146580493 0.00779
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His) rs117843717 0.00410
NM_012309.5(SHANK2):c.1289C>T (p.Ala430Val) rs113262375 0.00350
NM_012309.5(SHANK2):c.1759C>T (p.Pro587Ser) rs149996975 0.00094
NM_012309.5(SHANK2):c.1716C>T (p.Ile572=) rs782240808 0.00004

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