ClinVar Miner

List of variants reported as pathogenic for achromatopsia 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) rs104893616

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