ClinVar Miner

List of variants studied for color vision disorder by Neuberg Centre For Genomic Medicine, NCGM

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.485A>T (p.Asp162Val) rs747447519 0.00010
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) rs753625117 0.00001
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_007348.4(ATF6):c.780_784del (p.Gly261fs)

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