List of variants in gene SHANK3 reported as pathogenic for schizophrenia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NC_000022.11:g.50721470dup	rs1555910162
NM_001372044.2(SHANK3):c.1831C>T (p.Arg611Trp)	rs387906933
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)	rs387906932
NM_001372044.2(SHANK3):c.3904dup (p.Ala1302fs)	rs762292772
NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs)	rs2146832070
NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)
NM_001372044.2(SHANK3):c.4273dup (p.Glu1425fs)
NM_001372044.2(SHANK3):c.4910C>A (p.Ser1637Ter)

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