ClinVar Miner

List of variants in gene CFTR reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1210-14_1210-13insTG rs796065326
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.3(CFTR):c.1393-42G>A rs34906874
NM_000492.3(CFTR):c.1408G= (p.Met470Val) rs213950
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3717+45G>A rs145743767
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.744-9_744-6dupGATT rs1805171
NM_000492.3(CFTR):c.869+11C>T rs1800503

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