ClinVar Miner

List of variants in gene SHANK3 reported by Baylor Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.2455+1G>A rs1396379503 0.00001
GRCh37/hg19 22q13.33(chr22:51123491-51144365)
GRCh37/hg19 22q13.33(chr22:51132804-51144365)
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu) rs2082908926
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr) rs2082909895
NM_001372044.2(SHANK3):c.574A>T (p.Lys192Ter) rs2082934908
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)

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