ClinVar Miner

List of variants studied for age-related macular degeneration by OMIM

Included ClinVar conditions (40):
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ClinVar version:
Total variants: 62
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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_000099.4(CST3):c.73G>A (p.Ala25Thr) rs1064039 0.20062
NM_000063.6(C2):c.1360+62G>T rs547154 0.11826
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153 0.11820
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln) rs121908280 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302 0.00004
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu) rs121434299 0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) rs121434300 0.00002
NM_000350.3(ABCA4):c.1938-1G>A rs61751263 0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061 0.00001
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970 0.00001
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) rs768526003 0.00001
CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met)
NC_000001.10:g.(196722206_?)_(?_196808505)del
NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT rs2133900556
NC_012920.1:m.3243A>G rs199474657
NM_000186.4(CFH):c.1419G>C (p.Ala473=) rs2274700
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) rs61748548
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg) rs61749433
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) rs61749438
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) rs121909204
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) rs121909206
NM_000350.3(ABCA4):c.571-2A>G rs61748534
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His) rs727502800
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro) rs1730403199
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu) rs121434303
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser) rs121434301
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr) rs28939072
NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs) rs587776613
NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs) rs1131690770
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_031935.3(HMCN1):c.4163del (p.Pro1388fs) rs879255520

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