List of variants in gene SHANK2 reported by Genetics Laboratory, Facudade de Medicina de Sao Jose do Rio Preto

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_012309.5(SHANK2):c.1197G>A (p.Ala399=)	rs11237599	0.15569
NM_012309.5(SHANK2):c.1706G>A (p.Arg569His)	rs146580493	0.00779
NM_012309.5(SHANK2):c.2453G>A (p.Arg818His)	rs117843717	0.00410
NM_012309.5(SHANK2):c.1289C>T (p.Ala430Val)	rs113262375	0.00350
NM_012309.5(SHANK2):c.1759C>T (p.Pro587Ser)	rs149996975	0.00094
NM_012309.5(SHANK2):c.1716C>T (p.Ile572=)	rs782240808	0.00004

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