ClinVar Miner

List of variants in gene combination LOC126863188, SHANK3 reported as likely benign by GeneDx

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1879-94C>T rs113644328 0.00553
NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=) rs73892912 0.00331
NM_001372044.2(SHANK3):c.1962-4G>A rs201424967 0.00024
NM_001372044.2(SHANK3):c.1961+37G>C rs377714449 0.00023
NM_001372044.2(SHANK3):c.2022G>A (p.Thr674=) rs147941361 0.00023
NM_001372044.2(SHANK3):c.1962-5dup rs759132234
NM_001372044.2(SHANK3):c.2055C>T (p.Leu685=) rs374193833

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