ClinVar Miner

List of variants reported as benign for Macular degeneration

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.1274+8G>A rs2672586 0.99939
NM_001710.6(CFB):c.450A>G (p.Arg150=) rs1048709 0.85323
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_002775.5(HTRA1):c.1274+14G>A rs2272599 0.63755
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614 0.17324
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_001710.6(CFB):c.*23C>T rs4151672 0.03305
NM_001710.6(CFB):c.1365C>T (p.Val455=) rs2072634 0.01961
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_002775.5(HTRA1):c.473-8G>T rs114877122 0.00498
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) rs140088745 0.00485
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000350.3(ABCA4):c.1356+5dup rs281865386
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_001319074.4(RAX2):c.*721_*724del rs138512126

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