ClinVar Miner

List of variants studied for Knobloch syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.*340G>A rs7867 0.46140
NM_001379500.1(COL18A1):c.*16G>A rs7499 0.41352
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=) rs2230688 0.17750
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile) rs62000962 0.12931
NM_001379500.1(COL18A1):c.1275C>T (p.Pro425=) rs1131100 0.12789
NM_001379500.1(COL18A1):c.1290C>T (p.Asp430=) rs1131101 0.12488
NM_001379500.1(COL18A1):c.1428C>T (p.Phe476=) rs2236467 0.12399
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.828G>A (p.Ala276=) rs2230686 0.07106
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=) rs61731167 0.05785
NM_001379500.1(COL18A1):c.*277T>C rs17004784 0.03626
NM_001379500.1(COL18A1):c.2340G>C (p.Gln780His) rs2230693 0.03222
NM_001379500.1(COL18A1):c.603C>T (p.Ala201=) rs17004776 0.03174
NM_001379500.1(COL18A1):c.510A>G (p.Ala170=) rs76754353 0.03171
NM_001379500.1(COL18A1):c.420A>G (p.Thr140=) rs17004775 0.03170
NM_001379500.1(COL18A1):c.915G>T (p.Val305=) rs17338853 0.02722
NM_001379500.1(COL18A1):c.1221+14T>C rs9976881 0.02526
NM_001379500.1(COL18A1):c.2277+14G>T rs145217573 0.02518
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=) rs11544971 0.01462
NM_001379500.1(COL18A1):c.1509C>T (p.Gly503=) rs112723616 0.01339
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser) rs76547444 0.01152
NM_001379500.1(COL18A1):c.126G>A (p.Val42=) rs115800039 0.01130
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=) rs115470104 0.00930
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met) rs116111018 0.00795
NM_001379500.1(COL18A1):c.*302C>A rs17255281 0.00666
NM_001379500.1(COL18A1):c.*849A>T rs17255379 0.00666
NM_001379500.1(COL18A1):c.*6G>A rs138930698 0.00643
NM_001379500.1(COL18A1):c.612C>T (p.Phe204=) rs373748503 0.00581
NM_001379500.1(COL18A1):c.1390G>A (p.Asp464Asn) rs61738822 0.00478
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=) rs2230689 0.00474
NM_001379500.1(COL18A1):c.2379+7C>T rs202100967 0.00379
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser) rs753363173 0.00267
NM_001379500.1(COL18A1):c.1675-6G>A rs142726108 0.00263
NM_001379500.1(COL18A1):c.*864C>A rs186538749 0.00189
NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr) rs144281842 0.00167
NM_001379500.1(COL18A1):c.*532T>C rs560265269 0.00163
NM_001379500.1(COL18A1):c.*918C>T rs117981301 0.00108
NM_001379500.1(COL18A1):c.693G>A (p.Val231=) rs149772252 0.00108
NM_001379500.1(COL18A1):c.691G>A (p.Val231Met) rs202012055 0.00106
NM_001379500.1(COL18A1):c.1707C>T (p.Ser569=) rs559725056 0.00105
NM_001379500.1(COL18A1):c.1905C>T (p.Pro635=) rs199523495 0.00089
NM_001379500.1(COL18A1):c.1760C>T (p.Ala587Val) rs199823547 0.00081
NM_001379500.1(COL18A1):c.2490C>T (p.Ser830=) rs377601838 0.00081
NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=) rs564134000 0.00079
NM_001379500.1(COL18A1):c.2158-9C>T rs200143450 0.00074
NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=) rs369390092 0.00071
NM_001379500.1(COL18A1):c.*484C>T rs548084117 0.00070
NM_001379500.1(COL18A1):c.2328G>A (p.Leu776=) rs537203447 0.00053
NM_001379500.1(COL18A1):c.743C>T (p.Ser248Phe) rs200073359 0.00053
NM_001379500.1(COL18A1):c.*498G>A rs555167805 0.00051
NM_001379500.1(COL18A1):c.*1209C>T rs531456579 0.00049
NM_001379500.1(COL18A1):c.*431G>A rs368394587 0.00048
NM_001379500.1(COL18A1):c.*1107C>G rs543512810 0.00044
NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=) rs200106008 0.00037
NM_001379500.1(COL18A1):c.*718A>G rs571996497 0.00036
NM_001379500.1(COL18A1):c.*30G>A rs373537387 0.00033
NM_001379500.1(COL18A1):c.*1000C>A rs1017336505 0.00030
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr) rs201476017 0.00029
NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) rs201753320 0.00026
NM_001379500.1(COL18A1):c.604G>A (p.Gly202Arg) rs373735265 0.00026
NM_001379500.1(COL18A1):c.1453-6G>A rs200886865 0.00025
NM_001379500.1(COL18A1):c.2694G>A (p.Pro898=) rs190374248 0.00025
NM_001379500.1(COL18A1):c.2068-7C>T rs369084150 0.00024
NM_001379500.1(COL18A1):c.801C>T (p.Gly267=) rs145912433 0.00024
NM_001379500.1(COL18A1):c.*291G>A rs148610040 0.00022
NM_001379500.1(COL18A1):c.1155C>T (p.Val385=) rs761020121 0.00021
NM_001379500.1(COL18A1):c.1323G>A (p.Gly441=) rs201380467 0.00020
NC_000021.9:g.45405463C>T rs772492972 0.00019
NM_001379500.1(COL18A1):c.1594G>A (p.Gly532Arg) rs761342635 0.00019
NM_001379500.1(COL18A1):c.714C>T (p.Asp238=) rs369721525 0.00018
NM_001379500.1(COL18A1):c.1311+5G>C rs200610309 0.00017
NM_001379500.1(COL18A1):c.*1157C>G rs527507454 0.00016
NM_001379500.1(COL18A1):c.*1222C>T rs569200043 0.00016
NM_001379500.1(COL18A1):c.1659G>A (p.Gly553=) rs768751253 0.00016
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=) rs75222922 0.00016
NM_001379500.1(COL18A1):c.2623A>G (p.Asn875Asp) rs371993501 0.00016
NM_001379500.1(COL18A1):c.*134G>A rs570448232 0.00015
NM_001379500.1(COL18A1):c.2568C>T (p.Tyr856=) rs376919554 0.00014
NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln) rs2236453 0.00014
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met) rs201116208 0.00014
NM_001379500.1(COL18A1):c.873G>A (p.Thr291=) rs183924183 0.00013
NM_001379500.1(COL18A1):c.1008C>T (p.Gly336=) rs372133935 0.00011
NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=) rs139122081 0.00010
NM_001379500.1(COL18A1):c.*505G>A rs886057141 0.00009
NM_001379500.1(COL18A1):c.*851C>T rs886057145 0.00009
NM_001379500.1(COL18A1):c.1159G>A (p.Gly387Arg) rs755070737 0.00009
NM_001379500.1(COL18A1):c.187G>A (p.Asp63Asn) rs377002382 0.00009
NM_001379500.1(COL18A1):c.*1062C>T rs992675252 0.00008
NM_001379500.1(COL18A1):c.*824G>A rs538694500 0.00008
NM_001379500.1(COL18A1):c.2178G>A (p.Pro726=) rs556113991 0.00008
NM_001379500.1(COL18A1):c.*1088C>T rs756987643 0.00007
NM_001379500.1(COL18A1):c.*638G>A rs886057144 0.00007
NM_001379500.1(COL18A1):c.1057C>T (p.Arg353Trp) rs369114408 0.00007
NM_001379500.1(COL18A1):c.2107C>T (p.Pro703Ser) rs755064694 0.00007
NM_001379500.1(COL18A1):c.2433G>A (p.Pro811=) rs200147240 0.00007
NM_001379500.1(COL18A1):c.*133T>C rs886057138 0.00006
NM_001379500.1(COL18A1):c.*732C>T rs751709666 0.00006
NM_001379500.1(COL18A1):c.*95A>C rs1002803301 0.00006
NM_001379500.1(COL18A1):c.1044G>A (p.Pro348=) rs886057122 0.00006
NM_001379500.1(COL18A1):c.1702-4G>A rs376187378 0.00006
NM_001379500.1(COL18A1):c.2187+7G>C rs369701764 0.00006
NM_001379500.1(COL18A1):c.2578-12C>T rs201057172 0.00006
NM_001379500.1(COL18A1):c.2578G>T (p.Val860Leu) rs200779516 0.00006
NM_001379500.1(COL18A1):c.2577+9C>T rs774784084 0.00005
NM_001379500.1(COL18A1):c.996C>T (p.Arg332=) rs530808102 0.00005
NM_001379500.1(COL18A1):c.110G>A (p.Arg37His) rs771318359 0.00004
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_001379500.1(COL18A1):c.2085C>T (p.Asp695=) rs373006940 0.00004
NM_001379500.1(COL18A1):c.2148G>A (p.Ser716=) rs374522196 0.00004
NM_001379500.1(COL18A1):c.2279G>A (p.Gly760Asp) rs770537257 0.00004
NM_001379500.1(COL18A1):c.2428C>T (p.Arg810Trp) rs764129709 0.00004
NM_001379500.1(COL18A1):c.2434-8C>T rs367814420 0.00004
NM_001379500.1(COL18A1):c.2601C>T (p.Pro867=) rs374530279 0.00004
NM_001379500.1(COL18A1):c.2632C>T (p.Pro878Ser) rs377290522 0.00004
NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser) rs771054336 0.00004
NM_001379500.1(COL18A1):c.1059G>A (p.Arg353=) rs886057123 0.00003
NM_001379500.1(COL18A1):c.1165C>G (p.Gln389Glu) rs911055429 0.00003
NM_001379500.1(COL18A1):c.1949C>T (p.Pro650Leu) rs376627920 0.00003
NM_001379500.1(COL18A1):c.2032-6C>T rs886057126 0.00003
NC_000021.9:g.45405398C>T rs754075778 0.00002
NM_001379500.1(COL18A1):c.*369C>T rs886057140 0.00002
NM_001379500.1(COL18A1):c.1986C>T (p.Pro662=) rs754862849 0.00002
NM_001379500.1(COL18A1):c.2047A>C (p.Arg683=) rs886057127 0.00002
NM_001379500.1(COL18A1):c.217G>A (p.Asp73Asn) rs370054491 0.00002
NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs) rs771218061 0.00002
NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys) rs746594158 0.00002
NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile) rs750065884 0.00002
NM_001379500.1(COL18A1):c.676C>T (p.Arg226Cys) rs375001641 0.00002
NM_001379500.1(COL18A1):c.799-3C>G rs375628545 0.00002
NC_000021.9:g.45405396C>T rs2033062909 0.00001
NM_001379500.1(COL18A1):c.*1129A>C rs576842258 0.00001
NM_001379500.1(COL18A1):c.*1235T>C rs1441665870 0.00001
NM_001379500.1(COL18A1):c.*12A>T rs981074972 0.00001
NM_001379500.1(COL18A1):c.*390G>A rs760605806 0.00001
NM_001379500.1(COL18A1):c.*584C>A rs886057143 0.00001
NM_001379500.1(COL18A1):c.1132G>A (p.Ala378Thr) rs554098446 0.00001
NM_001379500.1(COL18A1):c.1507G>A (p.Gly503Ser) rs368194132 0.00001
NM_001379500.1(COL18A1):c.1674+15G>A rs201043325 0.00001
NM_001379500.1(COL18A1):c.1891C>T (p.Pro631Ser) rs777357848 0.00001
NM_001379500.1(COL18A1):c.1938G>T (p.Val646=) rs886057125 0.00001
NM_001379500.1(COL18A1):c.2031+9C>T rs780751282 0.00001
NM_001379500.1(COL18A1):c.2157+13C>T rs772102800 0.00001
NM_001379500.1(COL18A1):c.2429G>A (p.Arg810Gln) rs751578852 0.00001
NM_001379500.1(COL18A1):c.291C>T (p.His97=) rs1272002645 0.00001
NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His) rs770331440 0.00001
NM_001379500.1(COL18A1):c.598G>A (p.Gly200Ser) rs370834739 0.00001
NM_001379500.1(COL18A1):c.855G>A (p.Leu285=) rs754187386 0.00001
NM_001379500.1(COL18A1):c.928+13C>T rs767207437 0.00001
NC_000021.9:g.45405193A>C rs1449766997
NC_000021.9:g.45405204C>G rs1220724564
NC_000021.9:g.45405393G>T rs780315428
NM_001379500.1(COL18A1):c.*1148_*1149insCA rs78063943
NM_001379500.1(COL18A1):c.*1203A>G rs886057147
NM_001379500.1(COL18A1):c.*126C>T rs571271547
NM_001379500.1(COL18A1):c.*13T>A rs747722915
NM_001379500.1(COL18A1):c.*305C>T rs540888320
NM_001379500.1(COL18A1):c.*306G>C rs17004785
NM_001379500.1(COL18A1):c.*342C>G rs886057139
NM_001379500.1(COL18A1):c.*550dup rs545057492
NM_001379500.1(COL18A1):c.*71G>A rs8199
NM_001379500.1(COL18A1):c.*852G>C rs17004786
NM_001379500.1(COL18A1):c.*866C>T rs886057146
NM_001379500.1(COL18A1):c.*954C>T rs1602673287
NM_001379500.1(COL18A1):c.-2G>A rs1321675148
NM_001379500.1(COL18A1):c.1221+20dup rs200362222
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=) rs1131102
NM_001379500.1(COL18A1):c.1398+7C>G rs74439012
NM_001379500.1(COL18A1):c.1429G>C (p.Gly477Arg) rs375852929
NM_001379500.1(COL18A1):c.1581C>G (p.Arg527=) rs369409660
NM_001379500.1(COL18A1):c.1696C>A (p.His566Asn) rs2035946843
NM_001379500.1(COL18A1):c.1834-15G>A rs191917454
NM_001379500.1(COL18A1):c.2157+14G>A rs200650755
NM_001379500.1(COL18A1):c.2214+15G>A rs368257475
NM_001379500.1(COL18A1):c.2380-15C>T rs754575228
NM_001379500.1(COL18A1):c.2434-4C>G rs1392844393
NM_001379500.1(COL18A1):c.2510G>C (p.Gly837Ala) rs377444691
NM_001379500.1(COL18A1):c.2683+11C>G rs886057128
NM_001379500.1(COL18A1):c.2728-12T>C rs2037056022
NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=) rs11544970
NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2823C>A (p.Pro941=) rs543392161
NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=) rs751825604
NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser) rs761528498
NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) rs753873000
NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=) rs886057129
NM_001379500.1(COL18A1):c.3240A>G (p.Pro1080=) rs886057130
NM_001379500.1(COL18A1):c.3367G>A (p.Ala1123Thr) rs886057131
NM_001379500.1(COL18A1):c.3558C>T (p.Asp1186=) rs886057132
NM_001379500.1(COL18A1):c.3658G>A (p.Ala1220Thr) rs886057133
NM_001379500.1(COL18A1):c.3690C>T (p.Leu1230=) rs886057134
NM_001379500.1(COL18A1):c.3765C>T (p.Arg1255=) rs886057135
NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn) rs886057136
NM_001379500.1(COL18A1):c.3832G>T (p.Gly1278Cys) rs886057137
NM_001379500.1(COL18A1):c.624G>A (p.Ala208=) rs76148908
NM_001379500.1(COL18A1):c.651+6C>T rs755778352
NM_001379500.1(COL18A1):c.776G>T (p.Arg259Leu) rs62000965
NM_001379500.1(COL18A1):c.780G>C (p.Glu260Asp) rs560442019
NM_001379500.1(COL18A1):c.837C>A (p.Pro279=) rs2230687
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=) rs2230687
NM_030582.4(COL18A1):c.1278+5_1278+8del rs1568898560

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