ClinVar Miner

List of variants reported as pathogenic for Cystic fibrosis by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960

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