ClinVar Miner

List of variants reported as not provided for color vision disorder

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_001385125.1(OPN1SW):c.173G>A (p.Arg58His) rs764582600 0.00003
NM_006204.4(PDE6C):c.2284-10C>A rs1199306848 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344

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