ClinVar Miner

List of variants studied for age related macular degeneration, susceptibility to by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00093
NM_001737.5(C9):c.721del (p.Ser240_Leu241insTer) rs774253048 0.00046
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala) rs138534983 0.00031
NM_001737.5(C9):c.346C>T (p.Arg116Ter) rs121909592 0.00026
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) rs181729783 0.00024
NM_000204.5(CFI):c.719C>G (p.Ala240Gly) rs146444258 0.00024
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_000124.4(ERCC6):c.3892A>G (p.Arg1298Gly) rs139188695 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000204.5(CFI):c.570G>T (p.Glu190Asp) rs200086211 0.00009
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00008
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 0.00007
NM_000204.5(CFI):c.616T>A (p.Tyr206Asn) rs371623439 0.00007
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000204.5(CFI):c.130G>A (p.Asp44Asn) rs374036714 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_000204.5(CFI):c.1533A>G (p.Ala511=) rs369715801 0.00006
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000204.5(CFI):c.325G>A (p.Glu109Lys) rs748098641 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000204.5(CFI):c.859G>A (p.Gly287Arg) rs182078921 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr) rs762315947 0.00005
NM_000204.5(CFI):c.1470A>T (p.Lys490Asn) rs1458122971 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter) rs121917904 0.00004
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254 0.00004
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000204.5(CFI):c.1733T>C (p.Ile578Thr) rs760148430 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000204.5(CFI):c.603A>C (p.Arg201Ser) rs145769028 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000124.4(ERCC6):c.2287-2A>G rs754978734 0.00002
NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter) rs751838040 0.00002
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000204.5(CFI):c.1234G>A (p.Val412Met) rs371432629 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000204.5(CFI):c.530A>T (p.Asn177Ile) rs753060374 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000204.5(CFI):c.773-3C>T rs375483832 0.00002
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.1526+1G>T rs371739894 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2170-1G>A rs1310452605 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000124.4(ERCC6):c.2830-2A>G rs373227647 0.00001
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171 0.00001
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423 0.00001
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter) rs999171980 0.00001
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) rs773085612 0.00001
NM_000204.5(CFI):c.1025G>A (p.Gly342Glu) rs1312234258 0.00001
NM_000204.5(CFI):c.1133C>T (p.Ala378Val) rs759023625 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1315G>A (p.Gly439Arg) rs568632297 0.00001
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) rs1724402529 0.00001
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg) rs780759494 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) rs762431670 0.00001
NM_000204.5(CFI):c.439A>G (p.Met147Val) rs760787282 0.00001
NM_000204.5(CFI):c.452A>G (p.Asn151Ser) rs772044176 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) rs377528991 0.00001
NM_000204.5(CFI):c.848A>G (p.Asp283Gly) rs756201106 0.00001
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1088del (p.Ala363fs)
NM_000124.4(ERCC6):c.1115_1116del (p.Glu371_Ser372insTer)
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.1531C>T (p.Gln511Ter)
NM_000124.4(ERCC6):c.1717_1720del (p.Cys573fs)
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs) rs2132552521
NM_000124.4(ERCC6):c.1993-5A>G
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2093dup (p.Thr699fs) rs1439211546
NM_000124.4(ERCC6):c.2260_2264del (p.Leu754fs)
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2683C>T (p.Gln895Ter)
NM_000124.4(ERCC6):c.2792_2802del (p.Ile931fs) rs751623760
NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly)
NM_000124.4(ERCC6):c.310G>C (p.Val104Leu)
NM_000124.4(ERCC6):c.319C>T (p.Gln107Ter)
NM_000124.4(ERCC6):c.3539dup (p.His1181fs)
NM_000124.4(ERCC6):c.355G>T (p.Glu119Ter) rs1554794590
NM_000124.4(ERCC6):c.3656del (p.Gly1219fs)
NM_000124.4(ERCC6):c.3662G>A (p.Arg1221Gln)
NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) rs786205174
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.547C>T (p.Gln183Ter)
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.787dup (p.Ile263fs)
NM_000204.5(CFI):c.1007G>A (p.Arg336Gln)
NM_000204.5(CFI):c.1021G>A (p.Val341Met)
NM_000204.5(CFI):c.1036G>A (p.Ala346Thr)
NM_000204.5(CFI):c.1066G>A (p.Ala356Thr)
NM_000204.5(CFI):c.1075G>T (p.Asp359Tyr)
NM_000204.5(CFI):c.1122_1123insT (p.Ile375fs)
NM_000204.5(CFI):c.1166G>A (p.Arg389His)
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.1189G>T (p.Val397Leu)
NM_000204.5(CFI):c.11T>A (p.Leu4His)
NM_000204.5(CFI):c.121C>T (p.Leu41Phe)
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1235T>A (p.Val412Glu)
NM_000204.5(CFI):c.1274C>A (p.Thr425Asn)
NM_000204.5(CFI):c.1277A>G (p.Tyr426Cys)
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser) rs758017357
NM_000204.5(CFI):c.1298T>C (p.Ile433Thr)
NM_000204.5(CFI):c.1300del (p.Glu434fs)
NM_000204.5(CFI):c.1326dup (p.Asp443fs)
NM_000204.5(CFI):c.1342C>T (p.Arg448Cys)
NM_000204.5(CFI):c.1352C>G (p.Pro451Arg)
NM_000204.5(CFI):c.1388C>T (p.Pro463Leu)
NM_000204.5(CFI):c.1430A>G (p.Asp477Gly)
NM_000204.5(CFI):c.1459G>T (p.Gly487Cys)
NM_000204.5(CFI):c.1465G>A (p.Val489Ile)
NM_000204.5(CFI):c.1474A>C (p.Ile492Leu)
NM_000204.5(CFI):c.1489A>G (p.Lys497Glu)
NM_000204.5(CFI):c.1491G>C (p.Lys497Asn)
NM_000204.5(CFI):c.1538C>T (p.Thr513Ile)
NM_000204.5(CFI):c.1547G>A (p.Gly516Asp)
NM_000204.5(CFI):c.1569G>T (p.Gly523=)
NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)
NM_000204.5(CFI):c.1595T>C (p.Met532Thr)
NM_000204.5(CFI):c.1618G>A (p.Val540Ile)
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.163A>T (p.Ile55Phe)
NM_000204.5(CFI):c.1750T>C (p.Ter584Gln)
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.250A>C (p.Thr84Pro)
NM_000204.5(CFI):c.266A>C (p.Lys89Thr)
NM_000204.5(CFI):c.275A>G (p.Glu92Gly)
NM_000204.5(CFI):c.280C>T (p.Leu94Phe) rs1027910523
NM_000204.5(CFI):c.328+5C>T
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000204.5(CFI):c.413del (p.Met138fs)
NM_000204.5(CFI):c.419T>C (p.Ile140Thr)
NM_000204.5(CFI):c.439A>C (p.Met147Leu)
NM_000204.5(CFI):c.482+6C>G
NM_000204.5(CFI):c.502A>G (p.Arg168Gly)
NM_000204.5(CFI):c.505T>C (p.Phe169Leu)
NM_000204.5(CFI):c.57+1G>A
NM_000204.5(CFI):c.57+1G>C rs1425827135
NM_000204.5(CFI):c.599A>T (p.Lys200Met)
NM_000204.5(CFI):c.601A>G (p.Arg201Gly) rs887070139
NM_000204.5(CFI):c.612G>A (p.Met204Ile)
NM_000204.5(CFI):c.612G>T (p.Met204Ile)
NM_000204.5(CFI):c.634G>A (p.Val212Met)
NM_000204.5(CFI):c.688G>A (p.Val230Met)
NM_000204.5(CFI):c.748C>T (p.Gln250Ter)
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)
NM_000204.5(CFI):c.772+1G>T
NM_000204.5(CFI):c.773-1G>A
NM_000204.5(CFI):c.788G>T (p.Gly263Val)
NM_000204.5(CFI):c.805G>A (p.Gly269Ser)
NM_000204.5(CFI):c.822C>T (p.Ser274=)
NM_000204.5(CFI):c.83T>A (p.Leu28Gln)
NM_000204.5(CFI):c.905-1G>C
NM_000204.5(CFI):c.91A>C (p.Lys31Gln) rs140888912
NM_000204.5(CFI):c.92A>C (p.Lys31Thr)
NM_000204.5(CFI):c.940+6C>A
NM_000204.5(CFI):c.965T>C (p.Leu322Ser)
NM_000204.5(CFI):c.976T>C (p.Ser326Pro)
NM_001277058.2(ERCC6):c.1418dup (p.Ser474fs)
NM_001277058.2(ERCC6):c.1867_1868insG (p.Ile623fs)
NM_001277058.2(ERCC6):c.1882A>G (p.Lys628Glu)
NM_001277058.2(ERCC6):c.2435del (p.Pro812fs)
NM_001277058.2(ERCC6):c.2731_2732del (p.Lys911fs)
NM_001277058.2(ERCC6):c.2901G>A (p.Trp967Ter)
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs) rs1753477155
NM_001737.5(C9):c.1184_1185del (p.Ser395fs) rs752437276
NM_001737.5(C9):c.162C>A (p.Cys54Ter) rs34000044
NM_001737.5(C9):c.1677del (p.Lys559fs) rs762159491

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