ClinVar Miner

List of variants in gene COL1A1 reported as benign

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Gene type:
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Total variants: 83
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HGVS dbSNP
GRCh37/hg19 17q21.33(chr17:48263089-48278931)x1
NC_000017.11:g.50197821del
NM_000088.3(COL1A1):c.-161C>T
NM_000088.3(COL1A1):c.-41C>T rs200106397
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1002+52A>G
NM_000088.3(COL1A1):c.1002+77A>G
NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) rs375914028
NM_000088.3(COL1A1):c.103+265G>A
NM_000088.3(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074
NM_000088.3(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1461+27G>A
NM_000088.3(COL1A1):c.1587C>T (p.Pro529=) rs113437353
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1669-31T>C
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1803C>T (p.Pro601=) rs148275339
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1875+41G>C
NM_000088.3(COL1A1):c.1930-14T>C rs2696247
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1984-41G>A
NM_000088.3(COL1A1):c.1984-43G>C
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2028+39C>T
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.2175C>T (p.Gly725=) rs35017779
NM_000088.3(COL1A1):c.2235+118T>C
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2298T>C (p.Thr766=) rs2734272
NM_000088.3(COL1A1):c.2560-18C>G rs2075559
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2613+14G>A rs41316685
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.2830-33C>G
NM_000088.3(COL1A1):c.298+20CTGGGGC[4] rs150854949
NM_000088.3(COL1A1):c.298+34_298+35delinsTG rs1555575324
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.299-20C>G rs2256835
NM_000088.3(COL1A1):c.3046-6_3046-5dupCT rs138425306
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3208-127T>C
NM_000088.3(COL1A1):c.3223= (p.Ala1075=) rs1800215
NM_000088.3(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3261+31T>C
NM_000088.3(COL1A1):c.334-5C>A rs115997082
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3531+10C>A rs41316721
NM_000088.3(COL1A1):c.3815-35T>C
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4113G>A (p.Lys1371=) rs41316723
NM_000088.3(COL1A1):c.4179C>T (p.Ser1393=) rs1800219
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.4257C>T (p.Thr1419=) rs144134990
NM_000088.3(COL1A1):c.4281T>C (p.Ile1427=) rs41316725
NM_000088.3(COL1A1):c.471+32C>T
NM_000088.3(COL1A1):c.471+335T>C
NM_000088.3(COL1A1):c.472-297G>A
NM_000088.3(COL1A1):c.588+16G>A rs191715075
NM_000088.3(COL1A1):c.588+33T>C
NM_000088.3(COL1A1):c.588+72A>G
NM_000088.3(COL1A1):c.612C>T (p.Pro204=) rs138078016
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.642+18A>C rs16948767
NM_000088.3(COL1A1):c.642+25T>C rs73987448
NM_000088.3(COL1A1):c.643-81C>T
NM_000088.3(COL1A1):c.697-30A>G
NM_000088.3(COL1A1):c.750+12G>T rs79480112
NM_000088.3(COL1A1):c.804+62A>G
NM_000088.3(COL1A1):c.804+80A>C
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413

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