ClinVar Miner

List of variants reported as pathogenic for age-related macular degeneration by Mendelics

Included ClinVar conditions (40):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln) rs1366296798 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile) rs545963645
NM_000350.3(ABCA4):c.2161-1G>A rs1401924846
NM_000350.3(ABCA4):c.2587+1G>A rs61749439
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.2919-2A>G rs1660626613
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter) rs761209432
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter) rs1570367230
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs) rs1571265241
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs) rs61751401
NM_000350.3(ABCA4):c.4108del (p.His1370fs) rs1571265125
NM_000350.3(ABCA4):c.4571del (p.Asp1524fs) rs2101027758
NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del) rs1571258440
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs) rs1571257754
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5655del (p.Val1887fs) rs1659524475
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs) rs1571243037
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs) rs1373168392
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) rs61751418

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