ClinVar Miner

List of variants in gene COL1A1 reported as benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99956
NM_000088.4(COL1A1):c.472-140dup rs5820805 0.99875
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.3423+128G>A rs2696245 0.96852
NM_000088.4(COL1A1):c.1002+52A>G rs2141279 0.86913
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_000088.4(COL1A1):c.1002+77A>G rs2734281 0.85130
NM_000088.4(COL1A1):c.1056+129T>G rs2586494 0.83503
NM_000088.4(COL1A1):c.471+335T>C rs2586498 0.71615
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.70223
NM_000088.4(COL1A1):c.472-297G>A rs2586497 0.69620
NM_000088.4(COL1A1):c.1461+27G>A rs2253369 0.69323
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.66062
NM_000088.4(COL1A1):c.1669-31T>C rs1007086 0.64557
NM_000088.4(COL1A1):c.2451+103T>G rs2075558 0.34364
NM_000088.4(COL1A1):c.103+265G>A rs9898186 0.25975
NM_000088.4(COL1A1):c.588+33T>C rs35231764 0.22664
NM_000088.4(COL1A1):c.3815-35T>C rs2277632 0.18865
NM_000088.4(COL1A1):c.3207+163G>T rs28574643 0.16370
NM_000088.4(COL1A1):c.*744C>T rs1061947 0.15959
NM_000088.4(COL1A1):c.2127+128G>C rs2075556 0.13933
NM_000088.4(COL1A1):c.2236-158C>A rs2075557 0.13131
NM_000088.4(COL1A1):c.588+72A>G rs8076979 0.12696
NM_000088.4(COL1A1):c.*1011T>C rs1061970 0.12435
NM_000088.4(COL1A1):c.643-81C>T rs9913817 0.12093
NM_000088.4(COL1A1):c.1876-44C>T rs1800695 0.11130
NM_000088.4(COL1A1):c.3208-32C>A rs41316705 0.07680
NM_000088.4(COL1A1):c.471+32C>T rs73987449 0.07550
NM_000088.4(COL1A1):c.642+25T>C rs73987448 0.05218
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.696+54G>A rs73987447 0.03766
NM_000088.4(COL1A1):c.472-169C>G rs78805959 0.03588
NM_000088.4(COL1A1):c.2236-56C>T rs78377092 0.02436
NM_000088.4(COL1A1):c.103+277dup rs35626114 0.02370
NM_000088.3(COL1A1):c.-161C>T rs113647555 0.02290
NM_000088.4(COL1A1):c.3208-127T>C rs41316699 0.02177
NM_000088.4(COL1A1):c.1462-33C>T rs41316651 0.02038
NM_000088.4(COL1A1):c.2614-22T>C rs73987444 0.01984
NM_000088.4(COL1A1):c.1875+41G>C rs41316671 0.01369
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_000088.4(COL1A1):c.1984-43G>C rs117746137 0.01323
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.2343+34C>A rs149027707 0.00591
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.*981G>C rs574167621 0.00045
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00002
GRCh37/hg19 17q21.33(chr17:48263089-48278931)x1
NM_000088.1(COL1A1):c.*1724A>T
NM_000088.4(COL1A1):c.*1025_*1026del rs58879635
NM_000088.4(COL1A1):c.*1026dup rs58879635
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000088.4(COL1A1):c.*88T>C rs1061237
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1515+30C>G rs41316653
NM_000088.4(COL1A1):c.2235+118T>C rs2696246
NM_000088.4(COL1A1):c.298+20CTGGGGC[2] rs150854949
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.471+205T>C rs78271486
NM_000088.4(COL1A1):c.643-36del rs58135270

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