ClinVar Miner

List of variants studied for color vision disorder by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_020061.6(OPN1LW):c.920C>T (p.Pro307Leu) rs782797093 0.00001
NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)
NM_001298.3(CNGA3):c.2013del (p.Gly672fs)
NM_001377295.2(GNAT2):c.821T>C (p.Phe274Ser) rs1649516067

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