ClinVar Miner

List of variants in gene COL1A1 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000017.10:g.(?_48262843)_(48277749_?)dup
NC_000017.10:g.(?_48264825)_(48278894_?)dup
NC_000017.10:g.(?_48264825)_(48280990_?)dup
NM_000088.3(COL1A1):c.1000C>T (p.Pro334Ser)
NM_000088.3(COL1A1):c.103+5G>A rs1555575835
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1057-3C>G rs1555574180
NM_000088.3(COL1A1):c.1200+5G>A
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.125A>G (p.Gln42Arg)
NM_000088.3(COL1A1):c.1299C>T (p.Ser433=)
NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) rs751299130
NM_000088.3(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754
NM_000088.3(COL1A1):c.144T>A (p.His48Gln)
NM_000088.3(COL1A1):c.1693C>A (p.Pro565Thr)
NM_000088.3(COL1A1):c.1783G>T (p.Ala595Ser)
NM_000088.3(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791
NM_000088.3(COL1A1):c.1876-8C>T rs1329959391
NM_000088.3(COL1A1):c.1929+4A>C rs376244140
NM_000088.3(COL1A1):c.2032G>A (p.Glu678Lys) rs1213427451
NM_000088.3(COL1A1):c.2053C>T (p.Arg685Cys)
NM_000088.3(COL1A1):c.2107C>G (p.Pro703Ala)
NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246
NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) rs777571745
NM_000088.3(COL1A1):c.2197C>T (p.Arg733Cys) rs1567757112
NM_000088.3(COL1A1):c.2203G>T (p.Ala735Ser) rs1555573014
NM_000088.3(COL1A1):c.2216C>T (p.Pro739Leu)
NM_000088.3(COL1A1):c.228C>G (p.Asp76Glu) rs1314366641
NM_000088.3(COL1A1):c.2333C>T (p.Pro778Leu)
NM_000088.3(COL1A1):c.2387G>A (p.Arg796His)
NM_000088.3(COL1A1):c.2405G>A (p.Arg802His)
NM_000088.3(COL1A1):c.2428C>T (p.Pro810Ser) rs1555572744
NM_000088.3(COL1A1):c.2449C>A (p.Pro817Thr)
NM_000088.3(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.3(COL1A1):c.2539G>A (p.Ala847Thr) rs369455732
NM_000088.3(COL1A1):c.2573C>G (p.Ala858Gly) rs550053089
NM_000088.3(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520
NM_000088.3(COL1A1):c.260C>T (p.Pro87Leu)
NM_000088.3(COL1A1):c.2769_2777TCCCCCTGG[3] (p.925_927PGP[3]) rs1555572458
NM_000088.3(COL1A1):c.2773C>T (p.Pro925Ser) rs772929903
NM_000088.3(COL1A1):c.2806T>C (p.Ser936Pro) rs1555572452
NM_000088.3(COL1A1):c.2810C>A (p.Pro937His) rs1555572447
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382
NM_000088.3(COL1A1):c.298+6G>T
NM_000088.3(COL1A1):c.299-3T>G
NM_000088.3(COL1A1):c.3045+3G>A rs41316695
NM_000088.3(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707
NM_000088.3(COL1A1):c.308C>T (p.Thr103Ile)
NM_000088.3(COL1A1):c.3094G>A (p.Ala1032Thr) rs374095521
NM_000088.3(COL1A1):c.3100-10T>A
NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203
NM_000088.3(COL1A1):c.3183C>T (p.Gly1061=)
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3261+2dup
NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307
NM_000088.3(COL1A1):c.333+3A>C rs1555575205
NM_000088.3(COL1A1):c.3369+5G>C rs1555572075
NM_000088.3(COL1A1):c.3566C>A (p.Pro1189His) rs1555571859
NM_000088.3(COL1A1):c.3578G>A (p.Ser1193Asn) rs1567753025
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3680G>A (p.Arg1227His) rs543809032
NM_000088.3(COL1A1):c.3688G>A (p.Glu1230Lys) rs376564562
NM_000088.3(COL1A1):c.3754C>A (p.Arg1252Ser) rs781614679
NM_000088.3(COL1A1):c.3802G>A (p.Asp1268Asn)
NM_000088.3(COL1A1):c.3842G>T (p.Gly1281Val)
NM_000088.3(COL1A1):c.3846C>T (p.Cys1282=)
NM_000088.3(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681
NM_000088.3(COL1A1):c.3895T>A (p.Cys1299Ser) rs1567752383
NM_000088.3(COL1A1):c.3945C>T (p.Ser1315=) rs766059440
NM_000088.3(COL1A1):c.3994G>A (p.Asp1332Asn)
NM_000088.3(COL1A1):c.4005+5G>A rs778417218
NM_000088.3(COL1A1):c.4040A>G (p.Asp1347Gly)
NM_000088.3(COL1A1):c.4066C>A (p.Arg1356Ser)
NM_000088.3(COL1A1):c.4148A>G (p.Asn1383Ser) rs1555571631
NM_000088.3(COL1A1):c.4168C>T (p.Leu1390Phe)
NM_000088.3(COL1A1):c.4178C>T (p.Ser1393Phe) rs774210351
NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) rs146035171
NM_000088.3(COL1A1):c.419_420delinsCC (p.Leu140Pro) rs1555575068
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.4248G>A (p.Thr1416=)
NM_000088.3(COL1A1):c.424G>A (p.Gly142Arg) rs1567764128
NM_000088.3(COL1A1):c.427C>T (p.Pro143Ser)
NM_000088.3(COL1A1):c.429_437CCCCGGACC[1] (p.143_145PPG[3]) rs769867566
NM_000088.3(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_000088.3(COL1A1):c.4369G>A (p.Asp1457Asn)
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.4376G>C (p.Gly1459Ala)
NM_000088.3(COL1A1):c.441_458del (p.143_145PPG[2])
NM_000088.3(COL1A1):c.471+5G>T rs1555575015
NM_000088.3(COL1A1):c.543+10C>T
NM_000088.3(COL1A1):c.543+4A>G rs1555574855
NM_000088.3(COL1A1):c.557C>T (p.Pro186Leu) rs1555574809
NM_000088.3(COL1A1):c.655C>T (p.Pro219Ser)
NM_000088.3(COL1A1):c.740C>T (p.Pro247Leu) rs199626372
NM_000088.3(COL1A1):c.853C>G (p.Pro285Ala) rs1567761937
NM_000088.3(COL1A1):c.903+3G>A
NM_000088.3(COL1A1):c.937C>T (p.Pro313Ser)

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