ClinVar Miner

List of variants reported as pathogenic for Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19

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Total variants: 10
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NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944

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