ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681 0.00023
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382 0.00014
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn) rs371547661 0.00012
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.3531+4T>C rs145251615 0.00009
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg) rs367643097 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile) rs769619568 0.00004
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys) rs368295399 0.00003
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn) rs761895918 0.00003
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791 0.00002
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) rs374465457 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=) rs746565111 0.00002
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys) rs899337697 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.23G>A (p.Arg8Gln) rs1196007286 0.00001
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) rs72651668 0.00001
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu) rs748149807 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) rs547798347 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys) rs778077946 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser) rs908422422 0.00001
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) rs766407680 0.00001
NM_000088.4(COL1A1):c.1056+2T>C
NM_000088.4(COL1A1):c.1056+5G>C
NM_000088.4(COL1A1):c.106C>G (p.Pro36Ala)
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1717G>A (p.Ala573Thr)
NM_000088.4(COL1A1):c.1822-3C>A
NM_000088.4(COL1A1):c.1951C>A (p.Pro651Thr)
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
NM_000088.4(COL1A1):c.196G>C (p.Gly66Arg)
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.2029-5T>C
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
NM_000088.4(COL1A1):c.2078C>T (p.Pro693Leu)
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr) rs764478745
NM_000088.4(COL1A1):c.2321C>T (p.Pro774Leu)
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
NM_000088.4(COL1A1):c.2384C>T (p.Ala795Val)
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) rs751890158
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2557A>C (p.Ile853Leu)
NM_000088.4(COL1A1):c.2560-5del
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
NM_000088.4(COL1A1):c.3293A>G (p.Glu1098Gly)
NM_000088.4(COL1A1):c.334-5C>T rs115997082
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) rs1373318649
NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met)
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) rs1451296434
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
NM_000088.4(COL1A1):c.4180_4182del (p.Asn1394del)
NM_000088.4(COL1A1):c.4248+5G>C
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.429CCCCGGACC[3] (p.143PPG[5]) rs769867566
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)
NM_000088.4(COL1A1):c.441_458del (p.143PPG[2]) rs1315804923
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)

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