List of variants in gene SHANK3 reported as benign by Ambry Genetics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr)	rs9616915	0.46763
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr)	rs61729471	0.02583
NM_001372044.2(SHANK3):c.3222C>T (p.Tyr1074=)	rs144470529	0.01743
NM_001372044.2(SHANK3):c.3762G>A (p.Lys1254=)	rs145196448	0.00666
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=)	rs117066889	0.00587
NM_001372044.2(SHANK3):c.5172C>T (p.Pro1724=)	rs557669600	0.00492
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.3372C>T (p.Pro1124=)	rs200572899	0.00421
NM_001372044.2(SHANK3):c.885C>G (p.Leu295=)	rs187348640	0.00405
NM_001372044.2(SHANK3):c.3588C>T (p.Ser1196=)	rs200077311	0.00387
NM_001372044.2:c.1116C>T (p.Ser372=)	rs201282170	0.00386
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)	rs749130556	0.00319
NM_001372044.2(SHANK3):c.3238C>G (p.Pro1080Ala)	rs563455211	0.00198
NM_001372044.2(SHANK3):c.4671G>A (p.Gly1557=)	rs191010623	0.00053
NM_001372044.2(SHANK3):c.2268C>G (p.Pro756=)	rs61731160

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