ClinVar Miner

List of variants in gene SHANK3 reported as benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.1606C>G (p.Arg536Gly) rs1043729674 0.02423
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=) rs145196448 0.00666
NM_001372044.2(SHANK3):c.1470C>T (p.Ala490=) rs116756129 0.00455
NM_001372044.2(SHANK3):c.1299G>A (p.Leu433=) rs193191459 0.00450
NM_001372044.2(SHANK3):c.1191-5C>T rs146144920 0.00434
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001372044.2(SHANK3):c.3742G>A (p.Ala1248Thr) rs139686326 0.00053
NM_001372044.2(SHANK3):c.1530-282G>T rs764284877 0.00045
NM_001372044.2(SHANK3):c.4013C>T (p.Pro1338Leu) rs757572910 0.00017
NM_001372044.2(SHANK3):c.16GCC[9] (p.Ala13_Pro14insAla)
NM_001372044.2(SHANK3):c.2220-196_2220-195insCCCAC rs947564448

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