ClinVar Miner

List of variants in gene COL18A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.107-12592T>C rs914230 0.96979
NM_001379500.1(COL18A1):c.2352+28A>G rs749627 0.49789
NM_001379500.1(COL18A1):c.2215-107T>A rs2297289 0.46185
NM_001379500.1(COL18A1):c.1702-64G>A rs2274809 0.35477
NM_001379500.1(COL18A1):c.2215-142T>C rs2297288 0.32958
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.1611+161A>G rs2838940 0.31974
NM_001379500.1(COL18A1):c.1833+54A>G rs3818662 0.31801
NM_001379500.1(COL18A1):c.1453-68C>T rs28608951 0.31794
NM_001379500.1(COL18A1):c.2031+155T>C rs74504453 0.31432
NM_001379500.1(COL18A1):c.2031+61T>C rs2838947 0.27917
NM_001379500.1(COL18A1):c.2278-105C>G rs749626 0.27219
NM_001379500.1(COL18A1):c.652-42A>G rs2236456 0.23845
NM_001379500.1(COL18A1):c.107-11850G>A rs11702494 0.23796
NM_001379500.1(COL18A1):c.1674+34A>C rs12482088 0.23085
NM_001379500.1(COL18A1):c.798+58G>A rs77596926 0.22739
NM_001379500.1(COL18A1):c.107-177A>T rs7279077 0.22610
NM_001379500.1(COL18A1):c.738+107C>T rs2236457 0.22139
NM_001379500.1(COL18A1):c.1222-67T>C rs2236464 0.21149
NM_001379500.1(COL18A1):c.928+64T>G rs80289899 0.20788
NM_001379500.1(COL18A1):c.928+208_928+209del rs75692972 0.20516
NM_001379500.1(COL18A1):c.1896+56G>A rs9976784 0.19694
NM_001379500.1(COL18A1):c.1611+84C>T rs9983599 0.19281
NM_001379500.1(COL18A1):c.1702-148C>T rs2274808 0.19280
NM_001379500.1(COL18A1):c.1398+144G>A rs9980181 0.19255
NM_001379500.1(COL18A1):c.928+95T>G rs79633299 0.19059
NM_001379500.1(COL18A1):c.798+73_798+74del rs35616809 0.17940
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=) rs2230688 0.17750
NM_001379500.1(COL18A1):c.2380-134A>G rs9977637 0.17533
NM_001379500.1(COL18A1):c.1959+81G>A rs8131819 0.17277
NM_001379500.1(COL18A1):c.1834-74C>T rs9977268 0.16977
NM_001379500.1(COL18A1):c.2352+122T>C rs73228774 0.16741
NM_001379500.1(COL18A1):c.2353-198G>A rs60331963 0.16602
NM_001379500.1(COL18A1):c.2278-115G>A rs749625 0.16560
NM_001379500.1(COL18A1):c.2353-196T>C rs1556330 0.16256
NM_001379500.1(COL18A1):c.2215-130C>T rs75227606 0.16184
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.16080
NM_001379500.1(COL18A1):c.1249-144G>A rs9979599 0.14746
NM_001379500.1(COL18A1):c.2215-191G>A rs2297287 0.14504
NM_001379500.1(COL18A1):c.2353-197C>T rs71324428 0.13594
NM_001379500.1(COL18A1):c.107-15088T>C rs62216320 0.13124
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.929-72T>C rs2236463 0.12628
NM_001379500.1(COL18A1):c.929-104C>T rs2236462 0.12574
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.1702-85A>G rs2246749 0.12115
NM_001379500.1(COL18A1):c.1249-93T>C rs7280620 0.10966
NM_001379500.1(COL18A1):c.1399-49G>C rs2236465 0.10924
NM_001379500.1(COL18A1):c.2031+92C>G rs116274237 0.09737
NM_001379500.1(COL18A1):c.1224C>G (p.Gly408=) rs13046486 0.09402
NM_001379500.1(COL18A1):c.2032-107C>T rs112239383 0.08620
NM_001379500.1(COL18A1):c.2031+93C>T rs114405888 0.08073
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.2157+80dup rs201689768 0.06938
NM_001379500.1(COL18A1):c.1923+211C>T rs2838946 0.06515
NM_001379500.1(COL18A1):c.1959+91T>C rs117865619 0.06349
NM_001379500.1(COL18A1):c.107-12962C>T rs34336421 0.05890
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=) rs61731167 0.05785
NM_001379500.1(COL18A1):c.2620+175del rs34964495 0.05675
NM_001379500.1(COL18A1):c.1702-65C>T rs79985863 0.05402
NM_001379500.1(COL18A1):c.1897-229C>G rs78094056 0.04854
NM_001379500.1(COL18A1):c.1960-22G>A rs75354819 0.04787
NM_001379500.1(COL18A1):c.2031+149C>T rs577554539 0.04651
NM_001379500.1(COL18A1):c.107-11537T>C rs114463382 0.04603
NM_001379500.1(COL18A1):c.2352+25G>A rs77010332 0.03378
NM_001379500.1(COL18A1):c.2277+47G>C rs2297290 0.03371
NM_001379500.1(COL18A1):c.2434-117G>C rs2236476 0.03371
NM_001379500.1(COL18A1):c.107-168G>A rs79170909 0.03234
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.651+150T>C rs528149725 0.03161
NM_001379500.1(COL18A1):c.651+149C>T rs560995779 0.03156
NM_001379500.1(COL18A1):c.107-11487T>C rs58491986 0.03060
NM_001379500.1(COL18A1):c.651+179C>T rs116310358 0.02999
NM_001379500.1(COL18A1):c.799-212_799-207del rs1409194059 0.02867
NM_001379500.1(COL18A1):c.2031+154C>T rs879191830 0.02639
NM_001379500.1(COL18A1):c.1833+178C>T rs115843278 0.02561
NM_001379500.1(COL18A1):c.1221+14T>C rs9976881 0.02526
NM_001379500.1(COL18A1):c.2031+166G>A rs151172738 0.02312
NM_001379500.1(COL18A1):c.2578-189G>C rs2838948 0.02203
NM_001379500.1(COL18A1):c.1960-88G>A rs148618557 0.01879
NM_001379500.1(COL18A1):c.1674+124A>G rs73370812 0.01633
NM_001379500.1(COL18A1):c.1398+30C>T rs75859100 0.01565
NM_001379500.1(COL18A1):c.1399-132C>T rs114211166 0.01554
NM_001379500.1(COL18A1):c.1453-71G>A rs115375332 0.01552
NM_001379500.1(COL18A1):c.107-11439G>C rs77180157 0.01495
NM_001379500.1(COL18A1):c.2215-113G>A rs560168350 0.00530
NM_001379500.1(COL18A1):c.1143G>A (p.Ala381=) rs2230689 0.00474
NM_001379500.1(COL18A1):c.107-11498C>T rs549345311 0.00107
NM_001379500.1(COL18A1):c.107-12197G>A rs200284308 0.00063
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.1261C>T (p.Pro421Ser) rs375265466 0.00019
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met) rs201116208 0.00014
NM_001379500.1(COL18A1):c.107-11514G>A rs780737161 0.00013
NM_001379500.1(COL18A1):c.2056C>T (p.Arg686Trp) rs747007399 0.00008
NM_001379500.1(COL18A1):c.2103C>T (p.Gly701=) rs377652187 0.00005
NM_001379500.1(COL18A1):c.1043C>T (p.Pro348Leu) rs372859456 0.00004
NM_001379500.1(COL18A1):c.221C>G (p.Ala74Gly) rs761177952 0.00004
NM_001379500.1(COL18A1):c.2428C>T (p.Arg810Trp) rs764129709 0.00004
NM_001379500.1(COL18A1):c.107-11405C>T rs558767689 0.00002
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp) rs551388856 0.00002
NM_001379500.1(COL18A1):c.107-12491C>T rs749001958 0.00001
NM_001379500.1(COL18A1):c.1216G>A (p.Glu406Lys) rs766573503 0.00001
NM_001379500.1(COL18A1):c.1856G>A (p.Gly619Glu) rs751553488 0.00001
NM_001379500.1(COL18A1):c.107-11432G>A
NM_001379500.1(COL18A1):c.107-11576C>T rs8133886
NM_001379500.1(COL18A1):c.107-11594G>C rs559500998
NM_001379500.1(COL18A1):c.107-11983C>T rs2236452
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT rs1555853999
NM_001379500.1(COL18A1):c.1249-138G>C rs9979601
NM_001379500.1(COL18A1):c.1305C>A (p.Gly435=) rs1131102
NM_001379500.1(COL18A1):c.1312-31A>G rs80199607
NM_001379500.1(COL18A1):c.1312-37G>A rs9979845
NM_001379500.1(COL18A1):c.1399-48C>G rs2236466
NM_001379500.1(COL18A1):c.1834-23C>A rs73370824
NM_001379500.1(COL18A1):c.2031+105T>C rs73228766
NM_001379500.1(COL18A1):c.2031+138G>A rs111450913
NM_001379500.1(COL18A1):c.2031+145_2031+146insAC rs139849924
NM_001379500.1(COL18A1):c.2031+148C>G rs552856971
NM_001379500.1(COL18A1):c.2031+174_2031+175del rs71851609
NM_001379500.1(COL18A1):c.2031+91_2031+92insGTGGGT rs773887057
NM_001379500.1(COL18A1):c.2031+93_2031+94insCTGGGCCTCCATGTGCCCTCGT rs1568921346
NM_001379500.1(COL18A1):c.2032-175_2032-174insGTCTCTG rs71185154
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs) rs775168204
NM_001379500.1(COL18A1):c.2157+151_2157+152insTAGAGG rs769431409
NM_001379500.1(COL18A1):c.2157+162C>T rs74612549
NM_001379500.1(COL18A1):c.2157+48G>T rs62216329
NM_001379500.1(COL18A1):c.2157+79dup rs148502711
NM_001379500.1(COL18A1):c.2158-63C>T rs1556329
NM_001379500.1(COL18A1):c.2214+35_2214+36insCCACTGCCCTCCCG rs11267376
NM_001379500.1(COL18A1):c.2379+91C>T rs1556331
NM_001379500.1(COL18A1):c.2508+175_2508+176insACAT rs3028017
NM_001379500.1(COL18A1):c.2508+182G>A rs62214267
NM_001379500.1(COL18A1):c.2539C>T (p.Pro847Ser)
NM_001379500.1(COL18A1):c.2577+37del rs397867048
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747
NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu) rs200702024
NM_001379500.1(COL18A1):c.623C>T (p.Ala208Val) rs773440175
NM_001379500.1(COL18A1):c.624G>A (p.Ala208=) rs76148908
NM_001379500.1(COL18A1):c.651+129G>T rs114515445
NM_001379500.1(COL18A1):c.651+44_651+48del rs141013119
NM_001379500.1(COL18A1):c.830C>T (p.Pro277Leu)
NM_001379500.1(COL18A1):c.837C>G (p.Pro279=) rs2230687
NM_001379500.1(COL18A1):c.837dup (p.Val280fs) rs760175310
NM_001379500.1(COL18A1):c.929-111C>T rs9976834

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