ClinVar Miner

List of variants reported as uncertain significance for Autism by Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto

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Total variants: 11
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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_001372044.2(SHANK3):c.4038C>T (p.Gly1346=) rs367676023 0.00050
NM_001372044.2(SHANK3):c.4441C>G (p.Leu1481Val) rs201973139 0.00010
NM_012309.5(SHANK2):c.1716C>T (p.Ile572=) rs782240808 0.00004
NM_001372044.2(SHANK3):c.4377C>T (p.Thr1459=) rs1264636649 0.00001
NM_001372044.2(SHANK3):c.431A>G (p.Asp144Gly) rs1005062028
NM_001372044.2(SHANK3):c.4401C>G (p.Leu1467=) rs906873431

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