List of variants in gene SHANK3 reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)	rs2083275928
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)	rs1555910048
NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs)	rs2083278122
NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs)	rs2083280269
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)	rs387906932
NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs)	rs2083283892
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)	rs886041238
NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs)	rs2083292400
NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)	rs2083293616

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