ClinVar Miner

List of variants reported as uncertain significance for age-related macular degeneration by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala) rs147724093 0.00570
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012 0.00031
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 0.00003
NM_000063.6(C2):c.849+59G>A rs764825466 0.00002
NM_000063.6(C2):c.988+5G>A rs780974763 0.00002
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val) rs867524398

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