ClinVar Miner

List of variants in gene CNGB3 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.*29G>T rs138432513 0.00309
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.*1459C>T rs192543896 0.00178
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107 0.00124
NM_019098.4(CNGB3):c.-32T>C rs376141938 0.00123
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) rs150260103 0.00122
NM_019098.5(CNGB3):c.*1183T>C rs78927155 0.00096
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_019098.5(CNGB3):c.*51C>T rs189210452 0.00051
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_019098.5(CNGB3):c.*737T>C rs146999298 0.00034
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe) rs78239264 0.00031
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_019098.5(CNGB3):c.*1371G>T rs372688369 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_019098.5(CNGB3):c.*798A>C rs886063157 0.00019
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_019098.5(CNGB3):c.*499G>C rs540507221 0.00016
NM_019098.5(CNGB3):c.*84C>T rs372938106 0.00015
NM_019098.5(CNGB3):c.*649A>G rs778028865 0.00014
NM_019098.5(CNGB3):c.*1470G>C rs568808064 0.00013
NM_019098.5(CNGB3):c.*293T>C rs141717983 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_019098.5(CNGB3):c.624C>T (p.Asn208=) rs144347980 0.00013
NM_019098.5(CNGB3):c.*108C>T rs1031324821 0.00011
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) rs377730576 0.00011
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile) rs138320784 0.00011
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676 0.00006
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe) rs373286939 0.00006
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn) rs202240228 0.00006
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) rs770816095 0.00006
NM_019098.5(CNGB3):c.*206G>A rs886063159 0.00004
NM_019098.5(CNGB3):c.*570T>C rs965656666 0.00004
NM_019098.5(CNGB3):c.*731C>T rs886063158 0.00004
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971 0.00004
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr) rs375288585 0.00004
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr) rs150490913 0.00004
NM_019098.5(CNGB3):c.*1476T>A rs914165933 0.00003
NM_019098.5(CNGB3):c.*183A>C rs1199541859 0.00002
NM_019098.4(CNGB3):c.*1701C>T rs886063154 0.00001
NM_019098.5(CNGB3):c.*1218C>T rs1054383456 0.00001
NM_019098.5(CNGB3):c.*1368T>C rs886063155 0.00001
NM_019098.5(CNGB3):c.*1431G>A rs1337904740 0.00001
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160 0.00001
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269 0.00001
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) rs751667290 0.00001
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn) rs1410218983 0.00001
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe) rs750535143 0.00001
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn) rs148834016 0.00001
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr) rs1823848358 0.00001
NM_019098.5(CNGB3):c.738C>T (p.Thr246=) rs781628736 0.00001
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr) rs886063162 0.00001
NM_019098.4(CNGB3):c.*1654C>T rs796676165
NM_019098.4(CNGB3):c.*1705A>C rs982329960
NM_019098.4(CNGB3):c.*1733T>C rs970889903
NM_019098.5(CNGB3):c.*1093C>T rs886063156
NM_019098.5(CNGB3):c.*1143T>C rs1821625317
NM_019098.5(CNGB3):c.*272G>T rs1821641223
NM_019098.5(CNGB3):c.*291T>A rs1821640855
NM_019098.5(CNGB3):c.*379T>G rs188787381
NM_019098.5(CNGB3):c.*435G>A rs964834349
NM_019098.5(CNGB3):c.*800C>G rs1028298142
NM_019098.5(CNGB3):c.-1G>A rs1825379377
NM_019098.5(CNGB3):c.1178+9T>C rs549858104
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) rs768959472
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=) rs1822365271
NM_019098.5(CNGB3):c.212-6del rs745969238
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) rs1821645749
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu) rs758681401
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu) rs1456633980
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg) rs1823317372

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