List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance by Mendelics

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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.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)	rs397508511	0.00004
NM_000492.4(CFTR):c.2989-3C>G	rs397508471
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)	rs193922731
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup)	rs1469768894
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)	rs1562914212
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg)	rs1562914220
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe)	rs1584821736
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)	rs397508504
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)	rs77958296
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del)	rs1562914829

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