ClinVar Miner

List of variants in gene ARMS2 studied for age-related macular degeneration

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter) rs2736911 0.13199
NM_001099667.3(ARMS2):c.*374G>T rs566108895 0.13070
NM_001099667.3(ARMS2):c.*376T>C rs2672602 0.11668
NM_001099667.3(ARMS2):c.*385A>C rs2672603 0.11652
NM_001099667.3(ARMS2):c.*373T>G rs4752698 0.09758
NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) rs10490923 0.09089
NM_001099667.3(ARMS2):c.*45T>G rs150019974 0.00424
NM_001099667.3(ARMS2):c.*251T>C rs578150200 0.00136
NM_001099667.3(ARMS2):c.*161C>T rs536799180 0.00078
NM_001099667.3(ARMS2):c.*204C>A rs79134213 0.00063
NM_001099667.3(ARMS2):c.39G>A (p.Ala13=) rs200123144 0.00028
NM_001099667.3(ARMS2):c.*107T>G rs183542198 0.00025
NM_001099667.3(ARMS2):c.-9G>A rs186211237 0.00007
NM_001099667.3(ARMS2):c.*15A>G rs886046771 0.00006
NM_001099667.3(ARMS2):c.*313G>C rs1237612173 0.00001
NM_001099667.3(ARMS2):c.23C>T (p.Pro8Leu) rs778271975 0.00001
NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT rs2133900556
NM_001099667.3(ARMS2):c.*399A>G rs2097478012
NM_001099667.3(ARMS2):c.-60G>T rs886046769
NM_001099667.3(ARMS2):c.298-13A>G rs7088128
NM_001099667.3(ARMS2):c.298-13A>T rs7088128

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