ClinVar Miner

List of variants studied for Autism, susceptibility to, 17 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter) rs2135739220
NM_012309.5(SHANK2):c.3953_3958delinsGC (p.Thr1318fs)
NM_012309.5(SHANK2):c.4925C>T (p.Pro1642Leu) rs1555152736
NM_012309.5(SHANK2):c.993dup (p.Asn332fs)

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