List of variants in gene SHANK3 reported as pathogenic for Inborn genetic diseases

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001372044.2(SHANK3):c.2455+1G>A	rs1396379503	0.00001
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs)	rs2083233502
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs)	rs2083233723
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs)	rs1555910182
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)	rs886041238
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)	rs1064795759
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)	rs1569097392
NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs)	rs1555910140
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)	rs762292772

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