List of variants in gene combination CFTR, LOC111674472 reported as pathogenic by Ambry 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: 28

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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.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.3140-26A>G	rs76151804	0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)	rs78194216	0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	rs121908761	0.00003
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)	rs78802634	0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)	rs36210737	0.00002
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)	rs121909019	0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	rs139304906	0.00001
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.2989-2A>G	rs193922515
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)	rs397508472
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)	rs397508477
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu)	rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs)	rs397508482
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)	rs121908781
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)	rs121908767
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter)	rs397508496
NM_000492.4(CFTR):c.3161del (p.His1054fs)	rs387906377
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	rs142394380
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)	rs150020260
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter)	rs397508532
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter)	rs397508538
NM_000492.4(CFTR):c.3322del (p.Val1108fs)	rs2116085331
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846

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