ClinVar Miner

List of variants reported as risk factor for age-related macular degeneration

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.2237-543= rs1410996 0.54454
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.1204= (p.His402=) rs1061170 0.36375
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_002775.4(HTRA1):c.-625G>A rs11200638 0.22958
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met)
NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT rs2133900556
NM_000186.4(CFH):c.1419G>C (p.Ala473=) rs2274700

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