ClinVar Miner

List of variants studied for color vision disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser) rs183838250 0.00012
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) rs780411290 0.00011
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) rs144474033 0.00009
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) rs192448853 0.00009
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) rs190864281 0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) rs144605411 0.00004
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys) rs757167624 0.00003
NM_001298.3(CNGA3):c.661C>T (p.Arg221Ter) rs770713600 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu) rs772889663 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) rs1377555853 0.00002
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) rs1386641968 0.00002
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) rs757470958 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) rs373270306 0.00001
NM_019098.5(CNGB3):c.1929-1G>A rs750257554 0.00001
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) rs761969118 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) rs1293852552
NM_001298.3(CNGA3):c.1773C>A (p.Tyr591Ter)
NM_001298.3(CNGA3):c.396-11C>G
NM_001298.3(CNGA3):c.626C>A (p.Ser209Ter)
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1055+2T>G
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.127C>T (p.Gln43Ter)
NM_019098.5(CNGB3):c.129+1G>A
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.5(CNGB3):c.1430_1431delinsC rs1554610279
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1662+2T>C
NM_019098.5(CNGB3):c.1663-5T>G rs964530890
NM_019098.5(CNGB3):c.1870del (p.Leu624fs)
NM_019098.5(CNGB3):c.1929-2A>G rs1057517388
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.2103+1G>T
NM_019098.5(CNGB3):c.2143G>T (p.Glu715Ter)
NM_019098.5(CNGB3):c.2164G>T (p.Glu722Ter)
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) rs1821654702
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019098.5(CNGB3):c.238G>T (p.Gly80Ter)
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.412del (p.Arg138fs) rs1057516791
NM_019098.5(CNGB3):c.494-1G>A
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019098.5(CNGB3):c.643+1G>A
NM_019098.5(CNGB3):c.662G>A (p.Trp221Ter)
NM_019098.5(CNGB3):c.798T>G (p.Tyr266Ter)
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) rs1281085210
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161

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