ClinVar Miner

List of variants in gene CFAP418 studied for cone-rod dystrophy

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_177965.4(CFAP418):c.*1458A>C rs10109660 0.14928
NM_177965.4(CFAP418):c.*1949C>G rs117011452 0.06868
NM_177965.4(CFAP418):c.*2525T>C rs74318654 0.04409
NM_177965.4(CFAP418):c.*2163T>C rs75940981 0.04268
NM_177965.4(CFAP418):c.*1604C>G rs62522657 0.03460
NM_177965.4(CFAP418):c.*1667T>C rs62522656 0.03418
NM_177965.4(CFAP418):c.450G>A (p.Ser150=) rs35141355 0.01707
NM_177965.4(CFAP418):c.156-11C>T rs74652296 0.01693
NM_177965.4(CFAP418):c.*2330C>T rs150859301 0.01689
NM_177965.4(CFAP418):c.*791G>T rs140209136 0.01687
NM_177965.4(CFAP418):c.*2166T>G rs149998549 0.01510
NM_177965.4(CFAP418):c.*2419T>A rs74748655 0.01254
NM_177965.4(CFAP418):c.*644C>G rs77165822 0.01246
NM_177965.4(CFAP418):c.*2094C>T rs145349633 0.01119
NM_177965.4(CFAP418):c.243+20T>C rs10107484 0.00690
NM_177965.4(CFAP418):c.*536A>C rs150311212 0.00470
NM_177965.4(CFAP418):c.*2102G>A rs184350873 0.00162
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_177965.4(CFAP418):c.*2492C>T rs529486839 0.00140
NM_177965.4(CFAP418):c.*2498A>G rs554334722 0.00088
NM_177965.4(CFAP418):c.*2009C>T rs534647880 0.00072
NM_177965.4(CFAP418):c.*1870T>A rs767822765 0.00059
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser) rs199731969 0.00046
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_177965.4(CFAP418):c.*1629T>G rs532315210 0.00036
NM_177965.4(CFAP418):c.*2617G>T rs141942063 0.00031
NM_177965.4(CFAP418):c.*1474G>A rs147952646 0.00019
NM_177965.4(CFAP418):c.*1115G>C rs763366360 0.00014
NM_177965.4(CFAP418):c.*1675G>T rs886063192 0.00013
NM_177965.4(CFAP418):c.*383C>T rs189171642 0.00013
NM_177965.4(CFAP418):c.*2549C>A rs745781812 0.00011
NM_177965.4(CFAP418):c.*336G>A rs1026201093 0.00009
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile) rs969339085 0.00009
NM_177965.4(CFAP418):c.375-16T>A rs756845953 0.00009
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) rs764463463 0.00003
NM_177965.4(CFAP418):c.*406A>T rs530747662 0.00002
NM_177965.4(CFAP418):c.*408G>A rs561848397 0.00002
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr) rs759733354 0.00002
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln) rs748807525 0.00002
NM_177965.4(CFAP418):c.*1057C>T rs151180356 0.00001
NM_177965.4(CFAP418):c.*2129A>G rs897834152 0.00001
NM_177965.4(CFAP418):c.244-2A>C rs1060505042 0.00001
NM_177965.4(CFAP418):c.394T>C (p.Cys132Arg) rs1050414071 0.00001
NM_177965.4(CFAP418):c.414G>A (p.Leu138=) rs150592488 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_177965.4(CFAP418):c.555G>A (p.Trp185Ter) rs748014296 0.00001
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly) rs1483148451 0.00001
NM_177965.4(CFAP418):c.*1151A>G rs374730084
NM_177965.4(CFAP418):c.*155G>T rs1811639972
NM_177965.4(CFAP418):c.*1607T>C rs1811615650
NM_177965.4(CFAP418):c.*1628A>T rs937969592
NM_177965.4(CFAP418):c.*1687T>A rs886063191
NM_177965.4(CFAP418):c.*1811A>G rs114732021
NM_177965.4(CFAP418):c.*1904G>A rs929327663
NM_177965.4(CFAP418):c.*2017C>G rs550269782
NM_177965.4(CFAP418):c.*2212C>G rs79305170
NM_177965.4(CFAP418):c.*2212C>T rs79305170
NM_177965.4(CFAP418):c.*249T>C rs949281785
NM_177965.4(CFAP418):c.*863C>T rs997427905
NM_177965.4(CFAP418):c.*944A>C rs886063194
NM_177965.4(CFAP418):c.*965C>G rs886063193
NM_177965.4(CFAP418):c.156-2A>G rs1064792853
NM_177965.4(CFAP418):c.177del (p.Glu60fs) rs1811931460
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu) rs376587956
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg) rs757837788
NM_177965.4(CFAP418):c.363del (p.Asn121fs) rs1811856716
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) rs2132155183
NM_177965.4(CFAP418):c.440G>A (p.Trp147Ter)
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp) rs149558233
NM_177965.4(CFAP418):c.497T>A (p.Leu166Ter) rs1064792852
NM_177965.4(CFAP418):c.498A>G (p.Leu166=) rs1811644695
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg) rs387907137
NM_177965.4(CFAP418):c.598C>A (p.Leu200Ile) rs1332256474
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro) rs115660509

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