List of variants in gene CFTR reported as likely pathogenic for Congenital bilateral aplasia of vas deferens from CFTR mutation

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00038
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000492.4(CFTR):c.1405A>G (p.Met469Val)	rs397508203	0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly)	rs397508270	0.00002
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)	rs397508375	0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)	rs397508436	0.00001
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)	rs397508462	0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)	rs397508727	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	rs121908805
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu)	rs1554395370
NM_000492.4(CFTR):c.44T>A (p.Leu15His)	rs1562876459
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro)	rs193922529

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