List of variants in gene CNTNAP1 studied for peripheral neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_003632.3(CNTNAP1):c.364-34A>G	rs9889373	0.68019
NM_003632.3(CNTNAP1):c.1736-22G>A	rs3760386	0.53157
NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)	rs115552583	0.00411
NM_003632.3(CNTNAP1):c.3560G>A (p.Arg1187His)	rs374717974	0.00008
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	rs751050956	0.00005
NM_003632.3(CNTNAP1):c.1699G>A (p.Glu567Lys)	rs779992820	0.00003
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.1228G>A (p.Val410Met)
NM_003632.3(CNTNAP1):c.1446T>G (p.Tyr482Ter)
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.2015G>A (p.Trp672Ter)	rs1567973091
NM_003632.3(CNTNAP1):c.2198A>G (p.Asp733Gly)	rs2143663891
NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=)	rs141352323
NM_003632.3(CNTNAP1):c.3218G>A (p.Arg1073His)
NM_003632.3(CNTNAP1):c.3239C>T (p.Thr1080Met)
NM_003632.3(CNTNAP1):c.3361C>T (p.Arg1121Ter)	rs142756549
NM_003632.3(CNTNAP1):c.3629T>C (p.Leu1210Pro)
NM_003632.3(CNTNAP1):c.3814+1G>C
NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)	rs1567969825

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