ClinVar Miner

List of variants in gene CNGB3 reported as uncertain significance for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_019098.4(CNGB3):c.*1093C>T rs886063156
NM_019098.4(CNGB3):c.*1183T>C rs78927155
NM_019098.4(CNGB3):c.*125G>C rs186370374
NM_019098.4(CNGB3):c.*1368T>C rs886063155
NM_019098.4(CNGB3):c.*1371G>T rs372688369
NM_019098.4(CNGB3):c.*1459C>T rs192543896
NM_019098.4(CNGB3):c.*1470G>C rs568808064
NM_019098.4(CNGB3):c.*1701C>T rs886063154
NM_019098.4(CNGB3):c.*206G>A rs886063159
NM_019098.4(CNGB3):c.*293T>C rs141717983
NM_019098.4(CNGB3):c.*379T>G rs188787381
NM_019098.4(CNGB3):c.*51C>T rs189210452
NM_019098.4(CNGB3):c.*621G>A rs116835980
NM_019098.4(CNGB3):c.*731C>T rs886063158
NM_019098.4(CNGB3):c.*798A>C rs886063157
NM_019098.4(CNGB3):c.*84C>T rs372938106
NM_019098.4(CNGB3):c.-32T>C rs376141938
NM_019098.4(CNGB3):c.1056-3C>G rs1554611763
NM_019098.4(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160
NM_019098.4(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.4(CNGB3):c.1320+4A>G rs1026427970
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1492T>A (p.Leu498Met) rs115246141
NM_019098.4(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269
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.1672G>T (p.Gly558Cys) rs749413012
NM_019098.4(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.4(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.4(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849
NM_019098.4(CNGB3):c.1815T>G (p.Thr605=) rs143131185
NM_019098.4(CNGB3):c.2101C>T (p.Gln701Ter) rs1554604769
NM_019098.4(CNGB3):c.2103G>C (p.Gln701His) rs770214046
NM_019098.4(CNGB3):c.212-3T>C rs79126074
NM_019098.4(CNGB3):c.212-6del rs745969238
NM_019098.4(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971
NM_019098.4(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.4(CNGB3):c.2308G>T (p.Val770Phe) rs78239264
NM_019098.4(CNGB3):c.2383G>A (p.Gly795Arg) rs753083465
NM_019098.4(CNGB3):c.241G>A (p.Asp81Asn) rs148834016
NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289
NM_019098.4(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.4(CNGB3):c.339-17dup rs200792506
NM_019098.4(CNGB3):c.43G>C (p.Gly15Arg) rs150260103
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
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.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.913G>A (p.Ala305Thr) rs144637286

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