ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance by Natera, Inc.

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3128T>A (p.Leu1043Gln) rs1026006397 0.00003
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg) rs564165440 0.00003
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) rs759394109 0.00002
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met) rs144441835 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3139+3A>G rs950336425 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr) rs397508510 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr) rs751853765 0.00001
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) rs193922731
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser) rs978796108
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu) rs144441835
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg) rs1792369943
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser) rs397508504
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser) rs1792386620
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser) rs1584822281
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) rs373043500
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly) rs397508531
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) rs777445862
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile) rs1792392768
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486
NM_000492.4(CFTR):c.3356T>C (p.Ile1119Thr) rs1562914851
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala) rs1584822533

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