ClinVar Miner

List of variants in gene COL1A1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 138
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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.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.1930-14T>C rs2696247 0.13425
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.12150
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.2343+34C>A rs149027707 0.00591
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) rs113437353 0.00061
NM_000088.4(COL1A1):c.1461+7G>A rs374268357 0.00054
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 0.00054
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) rs147743501 0.00044
NM_000088.4(COL1A1):c.1984-7C>G rs376886366 0.00043
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser) rs145446512 0.00041
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
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.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=) rs141411256 0.00014
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=) rs757237837 0.00014
NM_000088.4(COL1A1):c.391C>A (p.Arg131=) rs776611767 0.00010
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr) rs746939680 0.00008
NM_000088.4(COL1A1):c.1515+17G>A rs778395663 0.00006
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) rs200188855 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00006
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=) rs369138260 0.00006
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=) rs560859897 0.00005
NM_000088.4(COL1A1):c.690A>G (p.Gly230=) rs776786081 0.00005
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=) rs137937544 0.00004
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly) rs746847841 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000088.4(COL1A1):c.45C>T (p.Ala15=) rs140295356 0.00004
NM_000088.4(COL1A1):c.298+6G>T rs753705753 0.00003
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=) rs753536372 0.00003
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=) rs764134427 0.00002
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=) rs745797859 0.00002
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00002
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp) rs769791947 0.00001
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His) rs72651662 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val) rs1339193404 0.00001
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=) rs913216741 0.00001
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=) rs772906802 0.00001
NM_000088.4(COL1A1):c.334-4A>G rs200621584 0.00001
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) rs370529603 0.00001
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg) rs1341583755 0.00001
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=) rs764510425 0.00001
NM_000088.4(COL1A1):c.663T>C (p.Gly221=) rs770083936 0.00001
NM_000088.4(COL1A1):c.*239_*244dup
NM_000088.4(COL1A1):c.*240_*244del
NM_000088.4(COL1A1):c.*241_*244dup
NM_000088.4(COL1A1):c.*242_*244del
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244del
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*244del
NM_000088.4(COL1A1):c.*244dup
NM_000088.4(COL1A1):c.-7T>C
NM_000088.4(COL1A1):c.-8G>C
NM_000088.4(COL1A1):c.-9G>A
NM_000088.4(COL1A1):c.1002+5G>A
NM_000088.4(COL1A1):c.1003-30T>C
NM_000088.4(COL1A1):c.1011C>G (p.Thr337=)
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) rs66494876
NM_000088.4(COL1A1):c.1155+6T>C
NM_000088.4(COL1A1):c.1300-4G>A
NM_000088.4(COL1A1):c.1354-1G>T
NM_000088.4(COL1A1):c.1462-3C>A rs2144572314
NM_000088.4(COL1A1):c.1515+15C>T rs758006385
NM_000088.4(COL1A1):c.1544del (p.Gly515fs)
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) rs193922143
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.1822-2del
NM_000088.4(COL1A1):c.1879C>T (p.Pro627Ser)
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=) rs1301142840
NM_000088.4(COL1A1):c.1984-6C>T rs373873548
NM_000088.4(COL1A1):c.2028+2T>A
NM_000088.4(COL1A1):c.2084del (p.Gly695fs) rs72651641
NM_000088.4(COL1A1):c.2282G>A (p.Gly761Asp)
NM_000088.4(COL1A1):c.2345G>C (p.Gly782Ala)
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.2397+9A>C
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala) rs66929517
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys)
NM_000088.4(COL1A1):c.2523del (p.Gly842fs) rs72653133
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu) rs72653142
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=) rs1388778878
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) rs1567755602
NM_000088.4(COL1A1):c.2975G>A (p.Gly992Asp)
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) rs1598288648
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[9] rs138425306
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser) rs66523073
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) rs74315111
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) rs74315111
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) rs72654794
NM_000088.4(COL1A1):c.3207+1G>C rs1555572239
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3232G>A (p.Val1078Ile)
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu)
NM_000088.4(COL1A1):c.3369+5G>C rs1555572075
NM_000088.4(COL1A1):c.3509del (p.Arg1170fs)
NM_000088.4(COL1A1):c.3553_3555delinsACTCCTGGTCCC (p.Gly1184_Pro1185insThrProGly)
NM_000088.4(COL1A1):c.3665del (p.Asn1222fs)
NM_000088.4(COL1A1):c.370-6C>G
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp) rs34940368
NM_000088.4(COL1A1):c.4005+1del
NM_000088.4(COL1A1):c.4006-40G>A
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu) rs149820303
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) rs72656349
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr) rs72656351
NM_000088.4(COL1A1):c.432dup (p.Gly145fs) rs72667016
NM_000088.4(COL1A1):c.449C>T (p.Pro150Leu)
NM_000088.4(COL1A1):c.65_66delinsTT (p.Gly22Val)
NM_000088.4(COL1A1):c.66C>T (p.Gly22=)
NM_000088.4(COL1A1):c.937C>A (p.Pro313Thr)
NM_000088.4(COL1A1):c.957+4del
NM_000088.4(COL1A1):c.957+6T>C
NM_000088.4(COL1A1):c.958-27T>G
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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