List of variants in gene CFTR reported as pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 52

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.2988+1G>A	rs75096551	0.00030
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000492.4(CFTR):c.489+1G>T	rs78756941	0.00011
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	rs75961395	0.00006
NM_000492.4(CFTR):c.2657+5G>A	rs80224560	0.00006
NM_000492.4(CFTR):c.1766+1G>A	rs121908748	0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)	rs74767530	0.00004
NM_000492.4(CFTR):c.1680-886A>G	rs397508266	0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	rs139573311	0.00002
NM_000492.4(CFTR):c.274-1G>A	rs121908792	0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)	rs79850223	0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	rs80282562	0.00002
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	rs121909017	0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	rs77101217	0.00001
NM_000492.4(CFTR):c.2464G>T (p.Glu822Ter)	rs397508378	0.00001
NM_000492.4(CFTR):c.273+1G>A	rs121908791	0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	rs397508476	0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)	rs121908763	0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	rs267606723	0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	rs121908802	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)	rs397508144
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)	rs77932196
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	rs397508189
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1477_1478del (p.Gln493fs)	rs121908775
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	rs121908745
NM_000492.4(CFTR):c.1692del (p.Asp565fs)	rs193922505
NM_000492.4(CFTR):c.1742dup (p.Leu581fs)	rs397508290
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter)	rs397508331
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)	rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs)	rs121908746
NM_000492.4(CFTR):c.2453del (p.Leu818fs)	rs397515498
NM_000492.4(CFTR):c.2472del (p.Asn825fs)	rs397508380
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)	rs121908769
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)	rs121908788
NM_000492.4(CFTR):c.2822del (p.Leu941fs)	rs762844777
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3873+1G>A	rs143570767
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.4242+1G>A	rs372227120
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	rs397508759
NM_000492.4(CFTR):c.580-1G>T	rs121908793
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)	rs397508778

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