ClinVar Miner

List of variants in gene SHANK3 reported by Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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_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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