ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.2620+29C>T rs73370840 0.16080
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg) rs79980197 0.07777
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.1215C>T (p.Gly405=) rs370283993 0.00046
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.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.107-12388C>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.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.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.107-11368G>A
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.107-11979G>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.1612-7C>T
NM_001379500.1(COL18A1):c.1675-3C>T
NM_001379500.1(COL18A1):c.2379+8G>A
NM_001379500.1(COL18A1):c.2509-4A>T
NM_001379500.1(COL18A1):c.2814CGGCCCCCC[1] (p.938PGP[3])
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.861A>G (p.Gly287=) rs1429208025
NM_001379500.1(COL18A1):c.929-4C>A rs370679863

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