List of variants in gene CFTR reported as uncertain significance 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_000492.4(CFTR):c.2620-6T>C	rs371315682	0.00038
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)	rs145877746	0.00036
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)	rs151020603	0.00009
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)	rs397508430	0.00008
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)	rs1800108	0.00006
NM_000492.4(CFTR):c.1518C>A (p.Ile506=)	rs1800092	0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=)	rs397508773	0.00002
NM_000492.4(CFTR):c.1545T>C (p.Tyr515=)	rs747504631	0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	rs773569201	0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly)	rs397508646	0.00001
NM_000492.4(CFTR):c.436C>T (p.His146Tyr)	rs1798856136	0.00001
NM_000492.4(CFTR):c.107A>C (p.Asp36Ala)
NM_000492.4(CFTR):c.1369G>A (p.Ala457Thr)
NM_000492.4(CFTR):c.164+9A>T	rs397508245
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu)	rs397508357
NM_000492.4(CFTR):c.389T>C (p.Leu130Pro)	rs1798853976
NM_000492.4(CFTR):c.490-25A>G	rs1798909647
NM_000492.4(CFTR):c.593C>T (p.Ala198Val)	rs73215910
NM_000492.4(CFTR):c.646T>C (p.Trp216Arg)	rs1562890551
NM_000492.4(CFTR):c.682G>T (p.Gly228Cys)	rs1435574279
NM_000492.4(CFTR):c.92G>A (p.Arg31His)	rs149353983

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