ClinVar Miner

List of variants reported as uncertain significance for Knobloch syndrome

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ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.*864C>A rs186538749 0.00189
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
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.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.107-12197G>A rs200284308 0.00063
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.1453-6G>A rs200886865 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.1323G>A (p.Gly441=) rs201380467 0.00020
NC_000021.9:g.45405463C>T rs772492972 0.00019
NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser) rs375265466 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.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.1825G>A (p.Ala609Thr) rs552119369 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.107-12131C>T rs758609359 0.00005
NM_001379500.1(COL18A1):c.2577+9C>T rs774784084 0.00005
NM_001379500.1(COL18A1):c.3466G>A (p.Ala1156Thr) rs754037826 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.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.107-11479C>A rs764709181 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
NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln) rs752092795 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.676C>T (p.Arg226Cys) rs375001641 0.00002
NM_001379500.1(COL18A1):c.799-3C>G rs375628545 0.00002
NM_199355.4(ADAMTS18):c.536C>T (p.Ser179Leu) rs387906972 0.00002
NC_000021.9:g.45405396C>T rs2033062909 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.*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.*342C>G rs886057139
NM_001379500.1(COL18A1):c.*550dup rs545057492
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.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.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.2899C>T (p.Pro967Ser) rs761528498
NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) rs753873000
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) rs759403198
NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=) rs886057129
NM_001379500.1(COL18A1):c.3310_3311delinsTG (p.Pro1104Trp) rs2146119886
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.3765C>T (p.Arg1255=) rs886057135
NM_001379500.1(COL18A1):c.651+6C>T rs755778352
NM_030582.4(COL18A1):c.1278+5_1278+8del rs1568898560

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