ClinVar Miner

List of variants in gene COL1A1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
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.299-20C>G rs2256835 0.54824
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.12150
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.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_000088.3(COL1A1):c.-161C>T rs113647555 0.02290
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.-41C>T rs200106397 0.00277
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.4006-33G>A rs201920224 0.00190
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_000088.4(COL1A1):c.1668+16C>T rs41316659 0.00160
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.642+11T>C rs376087528 0.00127
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
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.3531+14C>T rs199766533 0.00053
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=) rs146450504 0.00022
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) rs776387246 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.2127+12G>A rs778814970 0.00013
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.1300-9C>T rs780311548 0.00010
NM_000088.4(COL1A1):c.588+15C>T rs371817394 0.00009
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) rs375695940 0.00006
NM_000088.4(COL1A1):c.3099+15C>A rs1189154641 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.4017C>T (p.Gly1339=) rs201256042 0.00006
NM_000088.4(COL1A1):c.589-20T>C rs370564344 0.00006
NM_000088.4(COL1A1):c.1515+20G>A rs373728987 0.00004
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=) rs780217716 0.00004
NM_000088.4(COL1A1):c.1929+4A>C rs376244140 0.00004
NM_000088.4(COL1A1):c.4362C>T (p.Phe1454=) rs758524007 0.00004
NM_000088.4(COL1A1):c.544-4A>G rs369898579 0.00004
NM_000088.4(COL1A1):c.*20G>C rs199806909 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000088.4(COL1A1):c.3532-13C>T rs369694934 0.00003
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=) rs753536372 0.00003
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=) rs755763693 0.00003
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=) rs765353412 0.00002
NM_000088.4(COL1A1):c.-43C>T rs368832341 0.00001
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=) rs745564892 0.00001
NM_000088.4(COL1A1):c.1929+17G>C rs1291997527 0.00001
NM_000088.4(COL1A1):c.2343+18C>T rs1050837911 0.00001
NM_000088.4(COL1A1):c.2829+20T>C rs372169804 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr) rs1057518340 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) rs780242725 0.00001
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu) rs1555574123
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
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.1363G>A (p.Gly455Ser) rs72648339
NM_000088.4(COL1A1):c.165C>T (p.Pro55=) rs1057523677
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) rs1598295066
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) rs1555573621
NM_000088.4(COL1A1):c.1768-18A>C rs767179998
NM_000088.4(COL1A1):c.1822-32del rs757681237
NM_000088.4(COL1A1):c.1875+8T>A rs756572885
NM_000088.4(COL1A1):c.1876-6G>A rs763222869
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) rs1598302040
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) rs67368147
NM_000088.4(COL1A1):c.2128-1G>C rs67543897
NM_000088.4(COL1A1):c.2235+11C>A rs572426023
NM_000088.4(COL1A1):c.2235+11C>G rs572426023
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser)
NM_000088.4(COL1A1):c.2344-7C>T rs1031284183
NM_000088.4(COL1A1):c.2397+13G>A rs200821764
NM_000088.4(COL1A1):c.2451+14C>A
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=) rs764910205
NM_000088.4(COL1A1):c.2560-18C>T rs2075559
NM_000088.4(COL1A1):c.2668-7C>T rs1555572488
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.2830-11G>A rs1555572425
NM_000088.4(COL1A1):c.2937+9C>T rs1555572393
NM_000088.4(COL1A1):c.298+20CTGGGGC[4] rs150854949
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3424-10C>T rs1555571948
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=) rs768572265
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) rs1555571536
NM_000088.4(COL1A1):c.459T>C (p.Pro153=) rs1555575026

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