ClinVar Miner

List of variants studied for CNGA3-related retinopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412 0.13838
NM_001298.3(CNGA3):c.*838T>C rs13395005 0.06587
NM_001298.2(CNGA3):c.-286C>T rs13408372 0.06490
NM_001298.3(CNGA3):c.*574C>T rs13429817 0.03505
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205 0.00836
NM_001298.3(CNGA3):c.215+11A>G rs199755395 0.00490
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503 0.00467
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348 0.00451
NM_001298.3(CNGA3):c.396-4G>A rs114951127 0.00360
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=) rs78583671 0.00275
NM_001298.2(CNGA3):c.-383A>G rs143449407 0.00203
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_001298.3(CNGA3):c.*178C>T rs113687827 0.00122
NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile) rs147293818 0.00120
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=) rs137950660 0.00102
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001298.3(CNGA3):c.566+6C>T rs199558955 0.00080
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) rs181911949 0.00044
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426 0.00034
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=) rs201649850 0.00031
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg) rs144099488 0.00031
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr) rs61756692 0.00026
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) rs77311157 0.00023
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) rs138934573 0.00022
NM_001298.2(CNGA3):c.-271G>A rs192111633 0.00021
NM_001298.2(CNGA3):c.-388C>G rs748374868 0.00021
NM_001298.2(CNGA3):c.-326G>A rs886056487 0.00018
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) rs141086649 0.00018
NM_001298.3(CNGA3):c.*516T>C rs886056492 0.00016
NM_001298.3(CNGA3):c.*60G>A rs546240673 0.00015
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.*1330A>G rs558882744 0.00013
NM_001298.2(CNGA3):c.-406C>T rs529394802 0.00012
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu) rs148496805 0.00012
NM_001298.3(CNGA3):c.129G>A (p.Ser43=) rs372489647 0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001298.3(CNGA3):c.*1085G>A rs573445072 0.00007
NM_001298.3(CNGA3):c.*1240C>T rs886056495 0.00006
NM_001298.3(CNGA3):c.*166G>A rs746901363 0.00006
NM_001298.3(CNGA3):c.*283G>A rs140093444 0.00006
NM_001298.3(CNGA3):c.-65G>C rs750494086 0.00006
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu) rs370911601 0.00006
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001298.3(CNGA3):c.80G>A (p.Arg27His) rs769433253 0.00006
NM_001298.3(CNGA3):c.*1050A>G rs886056493 0.00004
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.144G>A (p.Pro48=) rs199670952 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.566+14G>A rs367748425 0.00004
NM_001298.3(CNGA3):c.395+9C>T rs375494943 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln) rs746563618 0.00003
NM_001298.3(CNGA3):c.*470C>T rs1273341168 0.00002
NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu) rs199631623 0.00002
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) rs143489966 0.00002
NM_001298.3(CNGA3):c.*316A>G rs1260317371 0.00001
NM_001298.3(CNGA3):c.*469A>G rs536138883 0.00001
NM_001298.3(CNGA3):c.*894C>T rs540492671 0.00001
NM_001298.3(CNGA3):c.154A>G (p.Met52Val) rs368962370 0.00001
NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg) rs1558821005 0.00001
NM_001298.3(CNGA3):c.1866C>T (p.Asp622=) rs886056490 0.00001
NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg) rs754086920 0.00001
NM_001298.3(CNGA3):c.225C>T (p.Arg75=) rs200404774 0.00001
NM_001298.3(CNGA3):c.238C>T (p.Leu80=) rs575326068 0.00001
NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys) rs994092587 0.00001
NM_001298.3(CNGA3):c.449+13A>G rs1692582037 0.00001
NM_001298.3(CNGA3):c.478G>A (p.Val160Met) rs373542579 0.00001
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NM_001298.2(CNGA3):c.-381A>G rs1691615064
NM_001298.3(CNGA3):c.*269A>G rs1692950011
NM_001298.3(CNGA3):c.*418T>C rs886056491
NM_001298.3(CNGA3):c.*751T>C rs1692960843
NM_001298.3(CNGA3):c.*765G>A rs1692961283
NM_001298.3(CNGA3):c.*904C>T rs867630128
NM_001298.3(CNGA3):c.-43G>A rs886056488
NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=) rs1692911635
NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu) rs1162745859
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1486C>T (p.Leu496=) rs747895951
NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp) rs886056489
NM_001298.3(CNGA3):c.553C>G (p.Leu185Val) rs779715055
NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro) rs1692797695
NM_001298.3(CNGA3):c.715C>T (p.Leu239=) rs768456172
NM_001298.3(CNGA3):c.777C>A (p.Thr259=) rs138921037

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