List of variants in gene CNTNAP2 reported as likely pathogenic for not provided

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter)	rs752550849	0.00001
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)	rs771533907	0.00001
NM_014141.6(CNTNAP2):c.1651_1652del (p.Met551fs)	rs1064796071
NM_014141.6(CNTNAP2):c.2096dup (p.Asp700fs)	rs1554416016
NM_014141.6(CNTNAP2):c.2391T>G (p.Tyr797Ter)	rs562833882
NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter)	rs267601384
NM_014141.6(CNTNAP2):c.2569_2572delinsCCC (p.Ser857fs)	rs1585151371
NM_014141.6(CNTNAP2):c.2646G>A (p.Trp882Ter)	rs1247068015
NM_014141.6(CNTNAP2):c.3028G>T (p.Glu1010Ter)
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter)	rs766777011
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter)	rs1159246607
NM_014141.6(CNTNAP2):c.3382-2A>C	rs1085307838
NM_014141.6(CNTNAP2):c.3385G>C (p.Asp1129His)
NM_014141.6(CNTNAP2):c.3657_3669dup (p.Met1224fs)	rs770489662
NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter)	rs1176180722
NM_014141.6(CNTNAP2):c.682G>T (p.Gly228Ter)	rs371512835
NM_014141.6(CNTNAP2):c.778_782delinsGGGA (p.Tyr260fs)	rs1554440668

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