ClinVar Miner

List of variants studied for cone-rod dystrophy 16

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
Download table as spreadsheet
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.55C>G (p.Pro19Ala) rs36096184 0.03219
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.126G>C (p.Arg42=) rs115853053 0.00168
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.155+20T>G rs202045168 0.00104
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.155+8G>A rs377262548 0.00015
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.82G>A (p.Glu28Lys) rs768222931 0.00006
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.155+12G>A rs371521751 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.134C>G (p.Ala45Gly) rs1197547920 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.65T>C (p.Leu22Pro) rs767780150 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.-5T>C rs886063195
NM_177965.4(CFAP418):c.124del (p.Arg42fs) rs1563477144
NM_177965.4(CFAP418):c.155+2T>C rs1085307121
NM_177965.4(CFAP418):c.156-2A>G rs1064792853
NM_177965.4(CFAP418):c.15G>A (p.Leu5=) rs1308193454
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.3G>A (p.Met1Ile) rs1249678588
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) rs2132155183
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu) rs1023654494
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
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser) rs779716988

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.