ClinVar Miner

List of variants in gene CFTR reported as benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1210-34TG[10] rs3832534
NM_000492.3(CFTR):c.1210-34_1210-33TG[12] rs3832534
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1680-870T>A rs213965
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.744-33GATT[6] rs1805171
NM_000492.3(CFTR):c.869+11C>T rs1800503

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