ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as likely benign for not specified

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3367+246C>T rs2188149 0.26366
NM_000492.4(CFTR):c.3140-33A>G rs373016758 0.00009
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=) rs746620950 0.00001
NM_000492.4(CFTR):c.2988+1186_2988+1194del rs534559351
NM_000492.4(CFTR):c.3039C>G (p.Pro1013=) rs1562914129
NM_000492.4(CFTR):c.3108C>G (p.Thr1036=) rs773627677
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=) rs144135742

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