ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000492.3(CFTR):c.*1031A>G rs886061954
NM_000492.3(CFTR):c.*1249T>C rs150494700
NM_000492.3(CFTR):c.*124_*125insC rs1554397824
NM_000492.3(CFTR):c.*144C>T rs149810643
NM_000492.3(CFTR):c.*1545C>T rs886061955
NM_000492.3(CFTR):c.*303G>C rs755544507
NM_000492.3(CFTR):c.*442C>T rs180783619
NM_000492.3(CFTR):c.*684A>G rs146818281
NM_000492.3(CFTR):c.*842del rs886061953
NM_000492.3(CFTR):c.*881C>T rs371815480
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) rs143980575
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.3(CFTR):c.1912C>T (p.Pro638Ser) rs1368033715
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2973A>G (p.Ile991Met) rs370181570
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) rs397508567
NM_000492.3(CFTR):c.3468+6T>A rs547442588
NM_000492.3(CFTR):c.3969G>A (p.Gly1323=) rs886061952
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079

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