ClinVar Miner

List of variants studied for color vision disorder by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) rs1386641968 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)
NM_019098.5(CNGB3):c.1318C>T (p.Gln440Ter)
NM_019098.5(CNGB3):c.372_375del (p.Ile124fs)

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