List of variants in gene CNTNAP1 reported as pathogenic for congenital limb malformation

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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: 10

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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.2668C>T (p.Arg890Ter)	rs144659252	0.00001
GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1
NM_003632.2(CNTNAP1):c.[1869G>A];[967T>C]
NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)	rs1555642784
NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)	rs1567973091
NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp)	rs757375034
NM_003632.3(CNTNAP1):c.2993-1_2995del	rs786204800
NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter)	rs786204799
NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs)	rs2053168326

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