List of variants in gene CNTN1 reported as pathogenic by Invitae

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001843.4(CNTN1):c.1074del (p.Ile359fs)	rs1592283787
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)
NM_001843.4(CNTN1):c.1615del (p.Val539fs)	rs2136952659
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)
NM_001843.4(CNTN1):c.215dup (p.Val74fs)	rs1565946117
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer)	rs1592415275
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs)	rs2120819481
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)	rs1555201269
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)	rs1555201480
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)
NM_001843.4(CNTN1):c.62del (p.Glu21fs)	rs2136817458
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)

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