List of variants in gene SHANK3 reported as likely pathogenic by GeneDx

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001372044.2(SHANK3):c.2300G>A (p.Arg767His)	rs1064796528
NM_001372044.2(SHANK3):c.2455+1G>C
NM_001372044.2(SHANK3):c.2951dup (p.Pro985fs)	rs1603447111
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs)	rs1555910182
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)	rs1064795759
NM_001372044.2(SHANK3):c.5046dup (p.Ile1683fs)	rs1603447381
NM_001372044.2(SHANK3):c.5086A>T (p.Lys1696Ter)	rs1085307954
NM_001372044.2(SHANK3):c.5239G>T (p.Asp1747Tyr)	rs1131691485
NM_001372044.2(SHANK3):c.5251T>C (p.Trp1751Arg)	rs1131691469
NM_001372044.2(SHANK3):c.5354T>C (p.Leu1785Pro)	rs1555910948
NM_001372044.2(SHANK3):c.973G>T (p.Gly325Cys)	rs1131691463
NM_001372044.2(SHANK3):c.993G>T (p.Gln331His)	rs1131691464

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