List of variants in gene combination CFTR, LOC111674472 reported as pathogenic 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: 27

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HGVS	dbSNP	gnomAD frequency
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.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_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.2989_3139del151	rs1562914028
NM_000492.4(CFTR):c.2911_3367+2del
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
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.3011del (p.Ala1004fs)	rs1562914082
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)	rs1562914107
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)	rs121908781
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)	rs1562914200
NM_000492.4(CFTR):c.3141_3468+1del
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)	rs397508510
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)	rs1562914641
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)	rs779177972
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)	rs397508535
NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer)	rs2116085156
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)	rs1562914838
NM_000492.4(CFTR):c.3367+1G>A	rs1470125842
NM_000492.4(CFTR):c.3367+2T>A	rs397508544

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