ClinVar Miner

List of variants in gene COL1A1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000088.4(COL1A1):c.1669-31T>C rs1007086 0.64557
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.696+54G>A rs73987447 0.03766
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
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.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
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.2127+60T>C rs112502723 0.00414
NM_000088.4(COL1A1):c.4005+44G>A rs145008436 0.00381
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.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) rs138544681 0.00069
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) rs142570406 0.00059
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
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.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00019
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000088.4(COL1A1):c.2236-9T>C rs375248255 0.00018
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000088.4(COL1A1):c.588+15C>T rs371817394 0.00009
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) rs369699409 0.00008
NM_000088.4(COL1A1):c.1983+16C>T rs536312322 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.2028+18G>A rs745829877 0.00005
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) rs772929903 0.00005
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=) rs761635519 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=) rs776229611 0.00002
NM_000088.4(COL1A1):c.1515+6C>T rs369422507 0.00002
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala) rs762809403 0.00001
NM_000088.4(COL1A1):c.1929+11A>G rs1323161515 0.00001
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val) rs1339193404 0.00001
NM_000088.4(COL1A1):c.2883C>T (p.Val961=) rs761548060 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521 0.00001
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) rs72656314 0.00001
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=) rs768896689 0.00001
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=)
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1102G>C (p.Gly368Arg) rs72645367
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.4(COL1A1):c.1238G>A (p.Gly413Asp) rs72648325
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val) rs1135401953
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) rs1907454557
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser) rs72648339
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala) rs1598296202
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=)
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg) rs67416837
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.1724G>A (p.Gly575Asp) rs1567759163
NM_000088.4(COL1A1):c.1767+4A>G rs2144569023
NM_000088.4(COL1A1):c.1945_1953del (p.Ala649_Pro651del) rs2144563120
NM_000088.4(COL1A1):c.2021G>A (p.Gly674Glu) rs1567757713
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) rs1598302040
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) rs68114505
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2128-1G>C rs67543897
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg)
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala) rs1906940342
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp) rs886043749
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) rs67445413
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) rs926503489
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp)
NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs) rs2144550352
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1]) rs1555572458
NM_000088.4(COL1A1):c.2829+1G>A rs72653156
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) rs72653178
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg) rs1555572024
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg) rs1278821174
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) rs67815019
NM_000088.4(COL1A1):c.3533G>A (p.Gly1178Asp) rs72656329
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) rs72656330
NM_000088.4(COL1A1):c.381C>T (p.Gly127=)
NM_000088.4(COL1A1):c.3925C>T (p.Gln1309Ter) rs2144534607
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=)
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn) rs982770651
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
NM_000088.4(COL1A1):c.472-13_472-12del rs1210027118

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