ClinVar Miner

List of variants reported for Cystic fibrosis by Genetics and Molecular Pathology, SA Pathology

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3802C>G (p.Gln1268Glu)
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)

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