ClinVar Miner

List of variants reported as uncertain significance for basal laminar drusen by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000186.4(CFH):c.1825G>A (p.Val609Ile) rs148165372 0.00042
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys) rs142902005 0.00032
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro) rs373385518 0.00026
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu) rs62625015 0.00025
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys) rs201671665 0.00019
NM_000186.4(CFH):c.2675C>T (p.Ala892Val) rs151068461 0.00017
NM_000186.4(CFH):c.472G>A (p.Val158Ile) rs141852866 0.00014
NM_000186.4(CFH):c.3607C>T (p.Arg1203Trp) rs145347741 0.00013
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) rs147002633 0.00013
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp) rs62641696 0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn) rs370640334 0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu) rs576819823 0.00010
NM_000186.4(CFH):c.1922T>C (p.Val641Ala) rs371768180 0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met) rs201360629 0.00006
NM_000186.4(CFH):c.2767C>T (p.Pro923Ser) rs368846503 0.00006
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile) rs757426928 0.00005
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn) rs752859825 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) rs121913062 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys) rs121913054 0.00004
NM_000186.4(CFH):c.769C>T (p.Arg257Cys) rs776887716 0.00004
NM_000186.4(CFH):c.526T>C (p.Phe176Leu) rs762132970 0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr) rs183474263 0.00003
NM_000186.4(CFH):c.122C>T (p.Thr41Ile) rs1192717326 0.00002
NM_000186.4(CFH):c.1654G>C (p.Val552Leu) rs372365885 0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser) rs755928805 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser) rs781393769 0.00002
NM_000186.4(CFH):c.100A>T (p.Thr34Ser) rs1389897706 0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu) rs1450633243 0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val) rs892717090 0.00001
NM_000186.4(CFH):c.1532T>G (p.Ile511Ser) rs1420895923 0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His) rs778051521 0.00001
NM_000186.4(CFH):c.1697-3A>C rs778174105 0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) rs144696019 0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met) rs573295841 0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu) rs763441589 0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser) rs753331225 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly) rs1366929531 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe) rs771435716 0.00001
NM_000186.4(CFH):c.65A>G (p.Asn22Ser) rs767494411 0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser) rs764573258 0.00001
NM_000186.4(CFH):c.104G>A (p.Gly35Asp)
NM_000186.4(CFH):c.11T>C (p.Leu4Pro)
NM_000186.4(CFH):c.1444G>A (p.Val482Ile)
NM_000186.4(CFH):c.1464A>G (p.Thr488=)
NM_000186.4(CFH):c.1486A>C (p.Lys496Gln)
NM_000186.4(CFH):c.1511C>G (p.Thr504Arg)
NM_000186.4(CFH):c.1511C>T (p.Thr504Met) rs377008918
NM_000186.4(CFH):c.158G>T (p.Arg53Leu)
NM_000186.4(CFH):c.1615G>A (p.Gly539Ser)
NM_000186.4(CFH):c.1666A>C (p.Asn556His) rs2149103764
NM_000186.4(CFH):c.1670G>A (p.Gly557Asp)
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly) rs757756991
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.1905A>T (p.Glu635Asp)
NM_000186.4(CFH):c.1916G>T (p.Gly639Val)
NM_000186.4(CFH):c.1986A>G (p.Arg662=)
NM_000186.4(CFH):c.2009A>C (p.Lys670Thr)
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu) rs1558178947
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr) rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser) rs2149108610
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)
NM_000186.4(CFH):c.2114C>T (p.Ser705Phe)
NM_000186.4(CFH):c.2149T>G (p.Phe717Val)
NM_000186.4(CFH):c.2167_2178del (p.Phe723_Ile726del)
NM_000186.4(CFH):c.218C>T (p.Ala73Val)
NM_000186.4(CFH):c.2200A>T (p.Ile734Phe)
NM_000186.4(CFH):c.2204A>G (p.His735Arg)
NM_000186.4(CFH):c.2237-3T>C
NM_000186.4(CFH):c.223A>C (p.Asn75His)
NM_000186.4(CFH):c.2247_2252del (p.Leu750_Lys751del)
NM_000186.4(CFH):c.2260A>G (p.Lys754Glu)
NM_000186.4(CFH):c.2261A>G (p.Lys754Arg)
NM_000186.4(CFH):c.2295A>T (p.Leu765Phe)
NM_000186.4(CFH):c.232A>G (p.Arg78Gly)
NM_000186.4(CFH):c.2402T>G (p.Val801Gly)
NM_000186.4(CFH):c.2405A>G (p.Asn802Ser)
NM_000186.4(CFH):c.245A>G (p.Lys82Arg)
NM_000186.4(CFH):c.2477C>A (p.Thr826Lys)
NM_000186.4(CFH):c.2519A>G (p.Gln840Arg)
NM_000186.4(CFH):c.2563G>A (p.Asp855Asn)
NM_000186.4(CFH):c.2565T>A (p.Asp855Glu)
NM_000186.4(CFH):c.25T>G (p.Cys9Gly)
NM_000186.4(CFH):c.2620C>T (p.Pro874Ser)
NM_000186.4(CFH):c.271A>G (p.Thr91Ala)
NM_000186.4(CFH):c.272C>G (p.Thr91Ser)
NM_000186.4(CFH):c.2851T>C (p.Tyr951His)
NM_000186.4(CFH):c.2905G>T (p.Ala969Ser)
NM_000186.4(CFH):c.2912C>T (p.Ala971Val)
NM_000186.4(CFH):c.3022T>C (p.Tyr1008His)
NM_000186.4(CFH):c.3029C>T (p.Ala1010Val)
NM_000186.4(CFH):c.3079G>A (p.Ala1027Thr)
NM_000186.4(CFH):c.3105C>A (p.Ser1035Arg)
NM_000186.4(CFH):c.3119G>A (p.Arg1040Lys)
NM_000186.4(CFH):c.3137CCT[1] (p.Ser1047del)
NM_000186.4(CFH):c.3149A>T (p.Asn1050Ile)
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
NM_000186.4(CFH):c.3168T>G (p.Asn1056Lys)
NM_000186.4(CFH):c.3181T>C (p.Ser1061Pro)
NM_000186.4(CFH):c.319G>A (p.Gly107Ser)
NM_000186.4(CFH):c.3209G>C (p.Gly1070Ala)
NM_000186.4(CFH):c.3215G>C (p.Arg1072Thr)
NM_000186.4(CFH):c.3220C>T (p.Arg1074Cys)
NM_000186.4(CFH):c.3238C>G (p.Pro1080Ala)
NM_000186.4(CFH):c.3271T>C (p.Cys1091Arg)
NM_000186.4(CFH):c.3285C>A (p.Asn1095Lys)
NM_000186.4(CFH):c.3290C>T (p.Thr1097Met)
NM_000186.4(CFH):c.3341C>T (p.Pro1114Leu)
NM_000186.4(CFH):c.3358A>G (p.Ile1120Val)
NM_000186.4(CFH):c.3377C>T (p.Ser1126Leu)
NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys)
NM_000186.4(CFH):c.3437G>A (p.Gly1146Asp)
NM_000186.4(CFH):c.3459A>C (p.Arg1153Ser)
NM_000186.4(CFH):c.3472T>C (p.Ser1158Pro)
NM_000186.4(CFH):c.3506T>C (p.Ile1169Thr)
NM_000186.4(CFH):c.3512G>A (p.Arg1171Gln)
NM_000186.4(CFH):c.3517A>T (p.Ile1173Phe)
NM_000186.4(CFH):c.3551C>T (p.Thr1184Ile)
NM_000186.4(CFH):c.3578C>T (p.Thr1193Ile)
NM_000186.4(CFH):c.3617G>A (p.Arg1206His)
NM_000186.4(CFH):c.418A>G (p.Ile140Val) rs1351991613
NM_000186.4(CFH):c.427+14G>C rs755841584
NM_000186.4(CFH):c.428T>C (p.Val143Ala)
NM_000186.4(CFH):c.497G>A (p.Arg166Gln) rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu) rs770339409
NM_000186.4(CFH):c.49G>A (p.Val17Ile)
NM_000186.4(CFH):c.521T>A (p.Val174Glu)
NM_000186.4(CFH):c.530T>C (p.Val177Ala)
NM_000186.4(CFH):c.550A>T (p.Ile184Phe)
NM_000186.4(CFH):c.558A>T (p.Gly186=)
NM_000186.4(CFH):c.602A>G (p.Glu201Gly)
NM_000186.4(CFH):c.626C>T (p.Ser209Leu)
NM_000186.4(CFH):c.658C>T (p.Pro220Ser)
NM_000186.4(CFH):c.669G>A (p.Gln223=)
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.791-20T>G
NM_000186.4(CFH):c.793A>G (p.Lys265Glu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000186.4(CFH):c.7C>T (p.Leu3Phe)
NM_000186.4(CFH):c.866A>G (p.Glu289Gly)
NM_000186.4(CFH):c.878A>G (p.Gln293Arg)
NM_000186.4(CFH):c.928A>G (p.Thr310Ala)

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