List of variants reported as likely benign for age-related macular degeneration by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)	rs12614	0.17324
NM_000063.6(C2):c.954G>C (p.Glu318Asp)	rs9332739	0.03307
NM_000186.4(CFH):c.2236+8T>A	rs7537967	0.01429
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)	rs79183244	0.01053
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)	rs148919174	0.00936
NM_001710.6(CFB):c.1137C>T (p.Arg379=)	rs45600936	0.00911
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)	rs61737523	0.00809
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)	rs114629728	0.00449
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)	rs114364265	0.00448
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)	rs138332626	0.00444
NM_000064.4(C3):c.3958C>A (p.Arg1320=)	rs141718696	0.00386
NM_000186.4(CFH):c.428-14T>C	rs184188486	0.00271
NM_000064.4(C3):c.2394C>T (p.Ser798=)	rs112178657	0.00237
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)	rs145529594	0.00224
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)	rs62641697	0.00219
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)	rs140493567	0.00218
NM_000064.4(C3):c.1686+20G>A	rs76024222	0.00212
NM_000064.4(C3):c.2245+15G>A	rs11569434	0.00192
NM_000064.4(C3):c.2685C>T (p.Ser895=)	rs138884408	0.00189
NM_000063.6(C2):c.2046A>G (p.Ala682=)	rs45507391	0.00154
NM_000064.4(C3):c.2901C>T (p.Leu967=)	rs34029609	0.00142
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)	rs139520520	0.00112
NM_000186.4(CFH):c.1935G>T (p.Thr645=)	rs56035657	0.00105
NM_000041.4(APOE):c.651C>T (p.Ala217=)	rs72654468	0.00090
NM_000064.4(C3):c.1344C>T (p.Thr448=)	rs150934856	0.00086
NM_000064.4(C3):c.4172+19G>A	rs181489450	0.00086
NM_000064.4(C3):c.876+19G>A	rs11569574	0.00068
NM_000064.4(C3):c.2190C>T (p.Tyr730=)	rs142455019	0.00055
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)	rs55807605	0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=)	rs55752475	0.00050
NM_000064.4(C3):c.1449C>T (p.His483=)	rs140133060	0.00044
NM_000064.4(C3):c.1452G>A (p.Glu484=)	rs146594928	0.00041
NM_000064.4(C3):c.1731T>C (p.Pro577=)	rs148182019	0.00041
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)	rs529491401	0.00039
NM_000186.4(CFH):c.245-8C>T	rs537160602	0.00038
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=)	rs145453022	0.00034
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)	rs55679475	0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)	rs55771831	0.00029
NM_000064.4(C3):c.3855C>T (p.Asp1285=)	rs142359391	0.00027
NM_000064.4(C3):c.4635C>T (p.Tyr1545=)	rs189948635	0.00026
NM_000041.4(APOE):c.69G>A (p.Ala23=)	rs111833428	0.00024
NM_000064.4(C3):c.4791G>A (p.Glu1597=)	rs149675330	0.00021
NM_000064.4(C3):c.1650C>T (p.Ser550=)	rs138835619	0.00019
NM_000064.4(C3):c.1923C>T (p.Asp641=)	rs113044084	0.00019
NM_000064.4(C3):c.2354+19C>T	rs192942944	0.00019
NM_001710.6(CFB):c.2100C>T (p.Gly700=)	rs116928087	0.00017
NM_001371596.2(MFSD8):c.864-16A>T	rs202196597	0.00016
NM_000064.4(C3):c.1722G>A (p.Gln574=)	rs140143815	0.00014
NM_000064.4(C3):c.1480-10G>A	rs200390075	0.00011
NM_000064.4(C3):c.2047+7G>A	rs770932217	0.00011
NM_000064.4(C3):c.2991G>A (p.Ala997=)	rs150763358	0.00011
NM_000064.4(C3):c.420C>A (p.Thr140=)	rs182399298	0.00011
NM_000064.4(C3):c.216G>A (p.Glu72=)	rs375940408	0.00009
NM_000064.4(C3):c.987C>T (p.Thr329=)	rs748313429	0.00009
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	rs147864267	0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)	rs1137971	0.00009
NM_000186.4(CFH):c.350+9T>C	rs201686629	0.00007
NM_000064.4(C3):c.2441-7C>T	rs372528487	0.00006
NM_000064.4(C3):c.3018C>T (p.Thr1006=)	rs141373588	0.00006
NM_000064.4(C3):c.3858C>T (p.Ala1286=)	rs751808949	0.00006
NM_000186.4(CFH):c.2056+16T>C	rs777352172	0.00006
NM_000186.4(CFH):c.245-17T>A	rs775088366	0.00006
NM_000064.4(C3):c.1854C>T (p.Asp618=)	rs570503574	0.00005
NM_000186.4(CFH):c.59-16T>C	rs201067374	0.00005
NM_001710.6(CFB):c.1778+8C>T	rs148298609	0.00005
NM_000186.4(CFH):c.2236+18A>G	rs749643506	0.00004
NM_000186.4(CFH):c.2957-15T>C	rs756514818	0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=)	rs757654697	0.00004
NM_000186.4(CFH):c.964+18C>A	rs1258420173	0.00004
NM_000041.4(APOE):c.249C>T (p.Asp83=)	rs767980905	0.00003
NM_000064.4(C3):c.3702C>T (p.Ser1234=)	rs754607975	0.00003
NM_000064.4(C3):c.4350+7C>A	rs148695501	0.00003
NM_000064.4(C3):c.4457-13C>T	rs375382978	0.00003
NM_000064.4(C3):c.4546+18G>A	rs377076572	0.00003
NM_000186.4(CFH):c.2868G>A (p.Thr956=)	rs533238588	0.00003
NM_000064.4(C3):c.1479+13C>G	rs368352750	0.00002
NM_000064.4(C3):c.3015G>T (p.Val1005=)	rs1340489185	0.00002
NM_000064.4(C3):c.3647-13A>G	rs760807491	0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=)	rs148552495	0.00002
NM_001371596.2(MFSD8):c.553+20C>T	rs542955531	0.00002
NM_000064.4(C3):c.1047G>C (p.Val349=)	rs747191565	0.00001
NM_000064.4(C3):c.1491G>A (p.Lys497=)	rs768360920	0.00001
NM_000064.4(C3):c.2118G>A (p.Ser706=)	rs755973774	0.00001
NM_000064.4(C3):c.2583+13G>A	rs774609150	0.00001
NM_000064.4(C3):c.3489+18T>C	rs747517809	0.00001
NM_000064.4(C3):c.3546C>T (p.Asn1182=)	rs189353964	0.00001
NM_000064.4(C3):c.4155C>T (p.Ile1385=)	rs563352895	0.00001
NM_000064.4(C3):c.4631-6C>T	rs775109096	0.00001
NM_000064.4(C3):c.4665C>G (p.Ser1555=)	rs542668902	0.00001
NM_000186.4(CFH):c.2236+10C>G	rs755790229	0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=)	rs553471643	0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=)	rs771886590	0.00001
NM_000063.6(C2):c.1567+22_1567+43del	rs541057516
NM_000064.4(C3):c.1920C>T (p.Ser640=)	rs139693406
NM_000064.4(C3):c.4547-16C>G	rs1414347444
NM_000064.4(C3):c.4645C>A (p.Leu1549Met)	rs149202905
NM_000064.4(C3):c.683-4C>G	rs377240996
NM_000064.4(C3):c.975C>T (p.Tyr325=)	rs1301665029
NM_000186.4(CFH):c.1935G>A (p.Thr645=)	rs56035657
NM_000186.4(CFH):c.245-9del	rs35507625
NM_000186.4(CFH):c.245-9dup	rs35507625
NM_000186.4(CFH):c.318T>C (p.Tyr106=)	rs1448752091
NM_000186.4(CFH):c.350+15C>T	rs190197472
NM_001371596.2(MFSD8):c.1351-9C>T	rs75039907
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)	rs73073594
NM_031935.3(HMCN1):c.14266+19_14266+22del	rs770465309

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