ClinVar Miner

List of variants studied for achromatopsia 3 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_019098.4(CNGB3):c.*108C>T
NM_019098.4(CNGB3):c.*1093C>T rs886063156
NM_019098.4(CNGB3):c.*1143T>C
NM_019098.4(CNGB3):c.*1183T>C rs78927155
NM_019098.4(CNGB3):c.*1218C>T
NM_019098.4(CNGB3):c.*125G>C rs186370374
NM_019098.4(CNGB3):c.*1303G>A rs17683284
NM_019098.4(CNGB3):c.*1368T>C rs886063155
NM_019098.4(CNGB3):c.*1371G>T rs372688369
NM_019098.4(CNGB3):c.*1431G>A
NM_019098.4(CNGB3):c.*1459C>T rs192543896
NM_019098.4(CNGB3):c.*1470G>C rs568808064
NM_019098.4(CNGB3):c.*1476T>A
NM_019098.4(CNGB3):c.*1638G>A rs28471019
NM_019098.4(CNGB3):c.*1639C>A rs990192
NM_019098.4(CNGB3):c.*1654C>T
NM_019098.4(CNGB3):c.*1701C>T rs886063154
NM_019098.4(CNGB3):c.*1705A>C
NM_019098.4(CNGB3):c.*1733T>C
NM_019098.4(CNGB3):c.*183A>C
NM_019098.4(CNGB3):c.*206G>A rs886063159
NM_019098.4(CNGB3):c.*272G>T
NM_019098.4(CNGB3):c.*291T>A
NM_019098.4(CNGB3):c.*293T>C rs141717983
NM_019098.4(CNGB3):c.*29G>T
NM_019098.4(CNGB3):c.*379T>G rs188787381
NM_019098.4(CNGB3):c.*389A>C rs16915861
NM_019098.4(CNGB3):c.*435G>A
NM_019098.4(CNGB3):c.*499G>C
NM_019098.4(CNGB3):c.*51C>T rs189210452
NM_019098.4(CNGB3):c.*570T>C
NM_019098.4(CNGB3):c.*621G>A rs116835980
NM_019098.4(CNGB3):c.*649A>G
NM_019098.4(CNGB3):c.*731C>T rs886063158
NM_019098.4(CNGB3):c.*735A>G rs73269601
NM_019098.4(CNGB3):c.*737T>C
NM_019098.4(CNGB3):c.*778T>C rs16915859
NM_019098.4(CNGB3):c.*798A>C rs886063157
NM_019098.4(CNGB3):c.*800C>G
NM_019098.4(CNGB3):c.*84C>T rs372938106
NM_019098.4(CNGB3):c.*915G>C
NM_019098.4(CNGB3):c.*997A>G
NM_019098.4(CNGB3):c.-1G>A
NM_019098.4(CNGB3):c.-32T>C rs376141938
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.4(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160
NM_019098.4(CNGB3):c.1178+9T>C rs549858104
NM_019098.4(CNGB3):c.1347A>T (p.Thr449=) rs768959472
NM_019098.4(CNGB3):c.1356G>A (p.Gln452=) rs34839859
NM_019098.4(CNGB3):c.1368C>T (p.Arg456=) rs141934736
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269
NM_019098.4(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824
NM_019098.4(CNGB3):c.1515G>A (p.Thr505=)
NM_019098.4(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676
NM_019098.4(CNGB3):c.1534A>G (p.Ile512Val) rs146062161
NM_019098.4(CNGB3):c.1626C>T (p.Ser542=) rs35903042
NM_019098.4(CNGB3):c.168G>C (p.Lys56Asn)
NM_019098.4(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.4(CNGB3):c.1773A>G (p.Gly591=)
NM_019098.4(CNGB3):c.1781+10A>T rs7000747
NM_019098.4(CNGB3):c.1815T>G (p.Thr605=) rs143131185
NM_019098.4(CNGB3):c.1833C>T (p.His611=) rs368787128
NM_019098.4(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746
NM_019098.4(CNGB3):c.2087G>A (p.Arg696Gln)
NM_019098.4(CNGB3):c.211+13T>G rs66881636
NM_019098.4(CNGB3):c.212-3T>C rs79126074
NM_019098.4(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107
NM_019098.4(CNGB3):c.2214A>G (p.Glu738=) rs3735970
NM_019098.4(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971
NM_019098.4(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972
NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) rs78239264
NM_019098.4(CNGB3):c.2350C>T (p.Leu784Phe)
NM_019098.4(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979
NM_019098.4(CNGB3):c.2419G>A (p.Ala807Thr)
NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289
NM_019098.4(CNGB3):c.2423A>C (p.Lys808Thr)
NM_019098.4(CNGB3):c.319G>A (p.Gly107Arg) rs146688972
NM_019098.4(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.4(CNGB3):c.354G>T (p.Pro118=) rs75858066
NM_019098.4(CNGB3):c.387T>G (p.Asp129Glu)
NM_019098.4(CNGB3):c.43G>C (p.Gly15Arg) rs150260103
NM_019098.4(CNGB3):c.460G>T (p.Asp154Tyr)
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.473C>T (p.Pro158Leu)
NM_019098.4(CNGB3):c.494-11T>C rs543970676
NM_019098.4(CNGB3):c.595G>A (p.Glu199Lys) rs114305748
NM_019098.4(CNGB3):c.608G>A (p.Arg203Gln) rs16916632
NM_019098.4(CNGB3):c.624C>T (p.Asn208=) rs144347980
NM_019098.4(CNGB3):c.670C>T (p.Leu224Phe) rs373286939
NM_019098.4(CNGB3):c.677C>A (p.Thr226Asn)
NM_019098.4(CNGB3):c.702T>G (p.Cys234Trp) rs6471482
NM_019098.4(CNGB3):c.720C>T (p.Leu240=) rs770816095
NM_019098.4(CNGB3):c.721G>A (p.Val241Ile)
NM_019098.4(CNGB3):c.738C>T (p.Thr246=) rs781628736
NM_019098.4(CNGB3):c.739G>A (p.Ala247Thr) rs150490913
NM_019098.4(CNGB3):c.773T>C (p.Ile258Thr) rs886063162
NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) rs35807406
NM_019098.4(CNGB3):c.892A>C (p.Thr298Pro) rs4961206
NM_019098.4(CNGB3):c.912C>T (p.Val304=) rs117806701
NM_019098.4(CNGB3):c.913G>A (p.Ala305Thr) rs144637286
NM_019098.4(CNGB3):c.919A>G (p.Ile307Val) rs13265557
NM_019098.4(CNGB3):c.989A>G (p.Lys330Arg)

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