ClinVar Miner

List of variants in gene COL18A1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2352+28A>G rs749627 0.49789
NM_001379500.1(COL18A1):c.107-12073A>G rs2236451 0.39262
NM_001379500.1(COL18A1):c.1920T>C (p.Leu640=) rs11702425 0.32196
NM_001379500.1(COL18A1):c.652-42A>G rs2236456 0.23845
NM_001379500.1(COL18A1):c.1674+34A>C rs12482088 0.23085
NM_001379500.1(COL18A1):c.846G>T (p.Thr282=) rs2230688 0.17750
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.16080
NM_001379500.1(COL18A1):c.1981G>A (p.Val661Ile) rs62000962 0.12931
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
NM_001379500.1(COL18A1):c.1950G>A (p.Pro650=) rs61731167 0.05785
NM_001379500.1(COL18A1):c.915G>T (p.Val305=) rs17338853 0.02722
NM_001379500.1(COL18A1):c.2196G>A (p.Pro732=) rs115470104 0.00930
NM_001379500.1(COL18A1):c.107-12381G>A rs114139997 0.00549
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.1675-6G>A rs142726108 0.00263
NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr) rs144281842 0.00167
NM_001379500.1(COL18A1):c.1203T>C (p.Pro401=) rs375400196 0.00126
NM_001379500.1(COL18A1):c.1254C>T (p.Asp418=) rs368594049 0.00117
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.920C>T (p.Ser307Leu) rs200882031 0.00089
NM_001379500.1(COL18A1):c.1540G>A (p.Asp514Asn) rs79292579 0.00083
NM_001379500.1(COL18A1):c.2392C>T (p.Arg798Trp) rs201566264 0.00073
NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=) rs369390092 0.00071
NM_001379500.1(COL18A1):c.107-11671G>T rs536492922 0.00068
NM_001379500.1(COL18A1):c.107-12210C>G rs201773944 0.00068
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.1215C>T (p.Gly405=) rs370283993 0.00046
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr) rs201476017 0.00029
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.2068-7C>T rs369084150 0.00024
NM_001379500.1(COL18A1):c.107-12121C>T rs746406313 0.00021
NM_001379500.1(COL18A1):c.1452G>T (p.Arg484=) rs373106775 0.00021
NM_001379500.1(COL18A1):c.315A>C (p.Pro105=) rs201508976 0.00021
NM_001379500.1(COL18A1):c.714C>T (p.Asp238=) rs369721525 0.00018
NM_001379500.1(COL18A1):c.1683A>G (p.Ala561=) rs75222922 0.00016
NM_001379500.1(COL18A1):c.107-12292G>A rs570643977 0.00015
NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln) rs2236453 0.00014
NM_001379500.1(COL18A1):c.1008C>T (p.Gly336=) rs372133935 0.00011
NM_001379500.1(COL18A1):c.176C>T (p.Thr59Met) rs200842530 0.00011
NM_001379500.1(COL18A1):c.107-12382C>T rs374634058 0.00010
NM_001379500.1(COL18A1):c.107-12388C>T rs370000815 0.00009
NM_001379500.1(COL18A1):c.1557C>T (p.Ala519=) rs372703675 0.00009
NM_001379500.1(COL18A1):c.288C>T (p.Phe96=) rs149578781 0.00009
NM_001379500.1(COL18A1):c.107-12490G>A rs768003538 0.00006
NM_001379500.1(COL18A1):c.2187+7G>C rs369701764 0.00006
NM_001379500.1(COL18A1):c.2202C>T (p.Phe734=) rs548261650 0.00005
NM_001379500.1(COL18A1):c.2214+9C>T rs771439983 0.00005
NM_001379500.1(COL18A1):c.799-9G>A rs201215190 0.00005
NM_001379500.1(COL18A1):c.996C>T (p.Arg332=) rs530808102 0.00005
NM_001379500.1(COL18A1):c.2032-10G>A rs368213286 0.00004
NM_001379500.1(COL18A1):c.651+6C>G rs755778352 0.00004
NM_001379500.1(COL18A1):c.799-10C>T rs370247182 0.00004
NM_001379500.1(COL18A1):c.803C>T (p.Ala268Val) rs375414087 0.00004
NM_001379500.1(COL18A1):c.1059G>A (p.Arg353=) rs886057123 0.00003
NM_001379500.1(COL18A1):c.107-12421C>T rs201529109 0.00003
NM_001379500.1(COL18A1):c.474C>T (p.Phe158=) rs377547341 0.00003
NM_001379500.1(COL18A1):c.825C>T (p.Pro275=) rs750922241 0.00003
NM_001379500.1(COL18A1):c.2229C>T (p.Pro743=) rs376292745 0.00002
NM_001379500.1(COL18A1):c.1069C>G (p.Pro357Ala) rs1276725071 0.00001
NM_001379500.1(COL18A1):c.107-12601C>T rs748717777 0.00001
NM_001379500.1(COL18A1):c.1200C>A (p.Thr400=) rs779596548 0.00001
NM_001379500.1(COL18A1):c.1311+10C>T rs770051708 0.00001
NM_001379500.1(COL18A1):c.2253C>T (p.Gly751=) rs942175133 0.00001
NM_001379500.1(COL18A1):c.1005+7C>G rs371767810
NM_001379500.1(COL18A1):c.107-11368G>A
NM_001379500.1(COL18A1):c.107-11440C>T
NM_001379500.1(COL18A1):c.107-11497G>A
NM_001379500.1(COL18A1):c.107-11497G>C
NM_001379500.1(COL18A1):c.107-11506G>C
NM_001379500.1(COL18A1):c.107-11515C>T
NM_001379500.1(COL18A1):c.107-11576C>G
NM_001379500.1(COL18A1):c.107-11596G>A
NM_001379500.1(COL18A1):c.107-11632C>T
NM_001379500.1(COL18A1):c.107-11749C>T
NM_001379500.1(COL18A1):c.107-11809C>T
NM_001379500.1(COL18A1):c.107-11848A>G
NM_001379500.1(COL18A1):c.107-11874G>A
NM_001379500.1(COL18A1):c.107-11943G>A
NM_001379500.1(COL18A1):c.107-11979G>A
NM_001379500.1(COL18A1):c.107-11982G>A
NM_001379500.1(COL18A1):c.107-12111C>T
NM_001379500.1(COL18A1):c.107-12112G>T
NM_001379500.1(COL18A1):c.107-12130G>A rs372854150
NM_001379500.1(COL18A1):c.107-12178G>A rs771496335
NM_001379500.1(COL18A1):c.107-12178G>T rs771496335
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001379500.1(COL18A1):c.107-12712G>A
NM_001379500.1(COL18A1):c.1079C>G (p.Pro360Arg)
NM_001379500.1(COL18A1):c.1312-37G>A rs9979845
NM_001379500.1(COL18A1):c.1399-48C>G rs2236466
NM_001379500.1(COL18A1):c.1612-7C>T
NM_001379500.1(COL18A1):c.1675-3C>T
NM_001379500.1(COL18A1):c.1834-23C>A rs73370824
NM_001379500.1(COL18A1):c.2214+35_2214+36insCCACTGCCCTCCCG rs11267376
NM_001379500.1(COL18A1):c.2379+8G>A
NM_001379500.1(COL18A1):c.2509-4A>T
NM_001379500.1(COL18A1):c.2577+37del rs397867048
NM_001379500.1(COL18A1):c.2814CGGCCCCCC[1] (p.938PGP[3])
NM_001379500.1(COL18A1):c.613G>C (p.Val205Leu)
NM_001379500.1(COL18A1):c.624G>C (p.Ala208=) rs76148908
NM_001379500.1(COL18A1):c.624G>T (p.Ala208=)
NM_001379500.1(COL18A1):c.652-6A>G
NM_001379500.1(COL18A1):c.661G>A (p.Ala221Thr) rs777771831
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_001379500.1(COL18A1):c.861A>G (p.Gly287=) rs1429208025
NM_001379500.1(COL18A1):c.929-4C>A rs370679863
NM_030582.4(COL18A1):c.3363_3380del (p.Pro1123_Gly1128del)

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