List of variants reported as drug response for ivacaftor response - Efficacy by PharmGKB

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)	rs75527207	0.00022
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)	rs121908752	0.00013
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)	rs121908755	0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)	rs397508442	0.00004
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)	rs121908753	0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	rs397508537	0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)	rs80282562	0.00002
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)	rs121909005	0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	rs397508256	0.00001
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)	rs141033578	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)	rs267606723	0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)	rs74503330	0.00001
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)	rs74551128
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	rs121908757
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)	rs397508288
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr)	rs397508513
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)	rs121909020
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)	rs121909041
NM_000492.4(CFTR):c.3808G>T (p.Asp1270Tyr)	rs11971167
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)	rs397508759

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