List of variants in gene combination CFTR, LOC111674472 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	rs1800114	0.00005
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	rs397508494	0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	rs397508498	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	rs142394380
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)	rs768963919
NM_000492.4(CFTR):c.3220T>C (p.Phe1074Leu)	rs1258481099
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)	rs771259493
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	rs397508531
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846

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