ClinVar Miner

List of variants reported as pathogenic for age related macular degeneration 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NC_012920.1:m.3243A>G rs199474657
NM_000350.2(ABCA4):c.5882G>A rs1800553
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.5917del (p.Gly1972_Val1973insTer) rs61751389
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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