ClinVar Miner

List of variants reported as pathogenic for Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421

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