ClinVar Miner

List of variants in gene COL18A1 reported as uncertain significance for Knobloch syndrome

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
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.107-12197G>A rs200284308 0.00063
NM_001379500.1(COL18A1):c.743C>T (p.Ser248Phe) rs200073359 0.00053
NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=) rs200106008 0.00037
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr) rs201476017 0.00029
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.1323G>A (p.Gly441=) rs201380467 0.00020
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.1659G>A (p.Gly553=) rs768751253 0.00016
NM_001379500.1(COL18A1):c.2623A>G (p.Asn875Asp) rs371993501 0.00016
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.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.2178G>A (p.Pro726=) rs556113991 0.00008
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.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.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.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.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.676C>T (p.Arg226Cys) rs375001641 0.00002
NM_001379500.1(COL18A1):c.799-3C>G rs375628545 0.00002
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.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
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.651+6C>T rs755778352
NM_030582.4(COL18A1):c.1278+5_1278+8del rs1568898560

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