ClinVar Miner

List of variants studied for achromatopsia 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NC_000002.12:g.98346191A>G
NM_001079878.2(CNGA3):c.1256_1258delinsAG (p.Val419fs) rs1558820471
NM_001298.2(CNGA3):c.-271G>A rs192111633
NM_001298.2(CNGA3):c.-286C>T rs13408372
NM_001298.2(CNGA3):c.-326G>A rs886056487
NM_001298.2(CNGA3):c.-383A>G rs143449407
NM_001298.2(CNGA3):c.-388C>G rs748374868
NM_001298.2(CNGA3):c.-406C>T rs529394802
NM_001298.3(CNGA3):c.*1050A>G rs886056493
NM_001298.3(CNGA3):c.*1085G>A
NM_001298.3(CNGA3):c.*1240C>T rs886056495
NM_001298.3(CNGA3):c.*1330A>G
NM_001298.3(CNGA3):c.*166G>A rs746901363
NM_001298.3(CNGA3):c.*178C>T rs113687827
NM_001298.3(CNGA3):c.*269A>G
NM_001298.3(CNGA3):c.*283G>A rs140093444
NM_001298.3(CNGA3):c.*316A>G
NM_001298.3(CNGA3):c.*418T>C rs886056491
NM_001298.3(CNGA3):c.*469A>G rs536138883
NM_001298.3(CNGA3):c.*470C>T
NM_001298.3(CNGA3):c.*516T>C rs886056492
NM_001298.3(CNGA3):c.*574C>T rs13429817
NM_001298.3(CNGA3):c.*60G>A rs546240673
NM_001298.3(CNGA3):c.*751T>C
NM_001298.3(CNGA3):c.*765G>A
NM_001298.3(CNGA3):c.*838T>C rs13395005
NM_001298.3(CNGA3):c.*894C>T
NM_001298.3(CNGA3):c.*904C>T rs867630128
NM_001298.3(CNGA3):c.-43G>A rs886056488
NM_001298.3(CNGA3):c.-65G>C
NM_001298.3(CNGA3):c.101+1G>A rs147118493
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) rs141086649
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=) rs201649850
NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=)
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608
NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu)
NM_001298.3(CNGA3):c.129G>A (p.Ser43=) rs372489647
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) rs62156348
NM_001298.3(CNGA3):c.144G>A (p.Pro48=)
NM_001298.3(CNGA3):c.1486C>T (p.Leu496=)
NM_001298.3(CNGA3):c.154A>G (p.Met52Val)
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) rs61752503
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=) rs78583671
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu) rs370911601
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) rs77311157
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=)
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) rs763041373
NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg)
NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp) rs886056489
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) rs181911949
NM_001298.3(CNGA3):c.1866C>T (p.Asp622=) rs886056490
NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile) rs147293818
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His)
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu)
NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg) rs754086920
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr)
NM_001298.3(CNGA3):c.215+11A>G rs199755395
NM_001298.3(CNGA3):c.225C>T (p.Arg75=) rs200404774
NM_001298.3(CNGA3):c.238C>T (p.Leu80=) rs575326068
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462
NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys)
NM_001298.3(CNGA3):c.395+9C>T
NM_001298.3(CNGA3):c.396-4G>A rs114951127
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg)
NM_001298.3(CNGA3):c.449+13A>G
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) rs34314205
NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu)
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) rs138934573
NM_001298.3(CNGA3):c.478G>A (p.Val160Met)
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612
NM_001298.3(CNGA3):c.553C>G (p.Leu185Val) rs779715055
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001298.3(CNGA3):c.566+14G>A
NM_001298.3(CNGA3):c.566+6C>T rs199558955
NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro)
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile)
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln)
NM_001298.3(CNGA3):c.715C>T (p.Leu239=)
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) rs6727412
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345
NM_001298.3(CNGA3):c.777C>A (p.Thr259=) rs138921037
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) rs374258471
NM_001298.3(CNGA3):c.80G>A (p.Arg27His)
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) rs368513591
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) rs104893616
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364

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