ClinVar Miner

List of variants studied for basal laminar drusen by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) rs1061170 0.63625
NM_000186.4(CFH):c.921A>C (p.Ala307=) rs1061147 0.61990
NM_000186.4(CFH):c.1419G>A (p.Ala473=) rs2274700 0.43407
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) rs1065489 0.14779
NM_000186.4(CFH):c.2016A>G (p.Gln672=) rs3753396 0.14639
NM_000186.4(CFH):c.*178T>A rs488738 0.08528
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000186.3(CFH):c.-195T>C rs35836460 0.04685
NM_000186.4(CFH):c.1160-15T>C rs34815383 0.03666
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) rs35343172 0.02118
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_000186.4(CFH):c.*98C>T rs35742764 0.01872
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) rs35453854 0.01591
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.1428A>G (p.Gln476=) rs34399588 0.01440
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000186.4(CFH):c.245-15T>C rs200079172 0.00052
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_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_000186.4(CFH):c.172T>G (p.Ser58Ala) rs141336681 0.00047
NM_000186.3(CFH):c.-175T>C rs762143457 0.00036
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
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_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000186.4(CFH):c.3291G>A (p.Thr1097=) rs409953 0.00023
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) rs371053403 0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=) rs144325643 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) rs201411537 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) rs11539862 0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) rs749875053 0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) rs772553879 0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) rs752302466 0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) rs186711438 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile) rs779670935 0.00002
NM_000186.4(CFH):c.*14G>A rs463726 0.00001
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) rs374704701 0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) rs886045746 0.00001
NM_000186.4(CFH):c.2784C>A (p.Gly928=) rs755926856 0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) rs149938052 0.00001
NM_000186.4(CFH):c.3134-7T>C rs779166622 0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=) rs769615121 0.00001
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.4(CFH):c.*127G>T rs369221006
NM_000186.4(CFH):c.-61A>G rs886045741
NM_000186.4(CFH):c.103G>A (p.Gly35Ser) rs886045742
NM_000186.4(CFH):c.1451C>T (p.Ala484Val) rs1668781638
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) rs760174473
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala) rs886045745
NM_000186.4(CFH):c.275C>T (p.Pro92Leu) rs886045743
NM_000186.4(CFH):c.2763T>C (p.Ser921=) rs1212658402
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.4(CFH):c.428-3C>T rs886045744
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423

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