ClinVar Miner

List of variants in gene CFTR reported by GeneDx

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Total variants: 33
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HGVS dbSNP
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-34TG[10] rs3832534
NM_000492.3(CFTR):c.1210-34_1210-33TG[12] rs3832534
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1928A>G (p.Lys643Arg) rs1085307844
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2052delA rs121908746
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.355A>G (p.Ile119Val) rs193922518
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.697C>G (p.Leu233Val) rs775713428
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter) rs79031340

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