List of variants in gene combination CFTR, LOC111674472 reported as likely pathogenic by Baylor 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	rs397508488	0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	rs140883683	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.2989-3C>G	rs397508471
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	rs397508479
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	rs756219310
NM_000492.4(CFTR):c.3078del (p.Phe1026fs)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)	rs1584821736
NM_000492.4(CFTR):c.3139+1del	rs780546355
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	rs121909036
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)	rs779177972
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)	rs1584822486
NM_000492.4(CFTR):c.3330del (p.Phe1111fs)
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys)	rs146521846

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