List of variants in gene CNTNAP1 reported as pathogenic by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	rs751050956	0.00005
NM_003632.3(CNTNAP1):c.2290C>T (p.Arg764Cys)	rs761805324	0.00001
NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg)	rs768554986	0.00001
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	rs779027563
NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)	rs1555642784
NM_003632.3(CNTNAP1):c.1677G>A (p.Trp559Ter)	rs756896276
NM_003632.3(CNTNAP1):c.1869G>A (p.Trp623Ter)	rs878853221
NM_003632.3(CNTNAP1):c.2011C>T (p.Gln671Ter)	rs1567973088
NM_003632.3(CNTNAP1):c.2993-1_2995del	rs786204800
NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter)	rs786204799
NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)	rs1567969825

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