ClinVar Miner

List of variants reported as pathogenic for color vision disorder by OMIM

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_006205.3(PDE6H):c.-29G>C rs114575851 0.00911
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NC_000007.14:g.128775556C>T rs104894031 0.00017
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NC_000007.14:g.128773786G>A rs104894033 0.00004
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612 0.00001
NC_000001.11:g.161791408dup rs869320751
NC_000007.14:g.128774545A>G rs104894032
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NM_000513.2(OPN1MW):c.-112A>C rs724159983
NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys) rs104894915
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln) rs104894916
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs) rs1692914478
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) rs104893616
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs) rs2101121827
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.[442A>G;446_447insT]
NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu) rs104894913
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912

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