ClinVar Miner

List of variants in gene CFTR reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000492.4(CFTR):c.1393-42G>A rs34906874 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000492.4(CFTR):c.2424T>C (p.Tyr808=) rs143954792 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 0.00011
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000492.4(CFTR):c.2475C>T (p.Asn825=) rs746961486 0.00005
NM_000492.4(CFTR):c.66A>G (p.Pro22=) rs748899228 0.00005
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.1932C>G (p.Leu644=) rs779674687 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000492.4(CFTR):c.2241G>A (p.Ala747=) rs146645194 0.00002
NM_000492.4(CFTR):c.2262G>C (p.Val754=) rs1201012182 0.00002
NM_000492.4(CFTR):c.2322A>T (p.Thr774=) rs778581398 0.00002
NM_000492.4(CFTR):c.2373A>G (p.Thr791=) rs202115503 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.589T>C (p.Leu197=) rs755619078 0.00002
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1707T>C (p.Tyr569=) rs397508278 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2460A>T (p.Ile820=) rs369664216 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3681A>G (p.Leu1227=) rs943312470 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.4095G>A (p.Lys1365=) rs759891255 0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=) rs146652541 0.00001
NM_000492.4(CFTR):c.927C>G (p.Ala309=) rs1800084 0.00001
NM_000492.4(CFTR):c.978A>G (p.Ala326=) rs757622174 0.00001
NM_000492.4(CFTR):c.1047G>T (p.Ala349=) rs200520623
NM_000492.4(CFTR):c.1176A>G (p.Val392=) rs542860881
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.1353A>G (p.Gly451=) rs1220983447
NM_000492.4(CFTR):c.1746A>C (p.Thr582=) rs751058333
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.4(CFTR):c.2313C>T (p.Asn771=) rs768301278
NM_000492.4(CFTR):c.2694T>C (p.Ser898=) rs2116061252
NM_000492.4(CFTR):c.390C>G (p.Leu130=) rs1411911535
NM_000492.4(CFTR):c.3996T>C (p.Pro1332=) rs2116220796
NM_000492.4(CFTR):c.927C>T (p.Ala309=) rs1800084

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