List of variants reported as pathogenic for cystic fibrosis by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	rs113993959	0.00029
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)	rs74597325	0.00012
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000492.4(CFTR):c.1585-1G>A	rs76713772	0.00008
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.1400T>C (p.Leu467Pro)	rs139573311	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	rs77101217	0.00001
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.2875del (p.Ala959fs)	rs397508447
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421

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