ClinVar Miner

List of variants in gene COL1A1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
NC_000017.10:g.(?_48272388)_(48277328_?)del
NC_000017.11:g.(?_50194147)_(50201244_?)dup
NM_000088.3(COL1A1):c.1012G>A (p.Gly338Ser) rs66664580
NM_000088.3(COL1A1):c.1057-1G>A rs1555574177
NM_000088.3(COL1A1):c.1081C>T (p.Arg361Ter) rs72645366
NM_000088.3(COL1A1):c.1099C>T (p.Gln367Ter) rs1555574158
NM_000088.3(COL1A1):c.1111G>A (p.Gly371Ser) rs72645368
NM_000088.3(COL1A1):c.1121delG (p.Gly374Alafs) rs1555574144
NM_000088.3(COL1A1):c.1128delT (p.Gly377Alafs)
NM_000088.3(COL1A1):c.1192_1199delGGTGCCAA (p.Gly398Trpfs)
NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.3(COL1A1):c.1247delG (p.Gly416Alafs) rs1555574071
NM_000088.3(COL1A1):c.1299+1G>A rs66490707
NM_000088.3(COL1A1):c.1354-12G>A rs72648337
NM_000088.3(COL1A1):c.1369C>T (p.Gln457Ter) rs1228746935
NM_000088.3(COL1A1):c.1382delG (p.Gly461Alafs) rs1555573897
NM_000088.3(COL1A1):c.1393G>T (p.Glu465Ter) rs865999256
NM_000088.3(COL1A1):c.1394delA (p.Glu465Glyfs)
NM_000088.3(COL1A1):c.1588G>A (p.Gly530Ser) rs67682641
NM_000088.3(COL1A1):c.1654A>T (p.Lys552Ter)
NM_000088.3(COL1A1):c.1678G>A (p.Gly560Ser) rs67507747
NM_000088.3(COL1A1):c.1678G>T (p.Gly560Cys) rs67507747
NM_000088.3(COL1A1):c.1703delC (p.Pro568Glnfs) rs1555573629
NM_000088.3(COL1A1):c.1772_1773delAG (p.Glu591Alafs) rs1555573484
NM_000088.3(COL1A1):c.1792C>T (p.Arg598Ter) rs72651614
NM_000088.3(COL1A1):c.1821+1G>A rs66555264
NM_000088.3(COL1A1):c.1862_1865delCCCC (p.Pro621Leufs) rs72651620
NM_000088.3(COL1A1):c.1930-1G>A rs1555573288
NM_000088.3(COL1A1):c.1A>G (p.Met1Val) rs1555575889
NM_000088.3(COL1A1):c.2010delT (p.Gly671Alafs) rs72651634
NM_000088.3(COL1A1):c.2028+2T>G rs72651635
NM_000088.3(COL1A1):c.2073delT (p.Gly692Valfs) rs72651640
NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642
NM_000088.3(COL1A1):c.2127+2T>A
NM_000088.3(COL1A1):c.2128-1G>C rs67543897
NM_000088.3(COL1A1):c.212dup (p.Asp71Glufs)
NM_000088.3(COL1A1):c.2139delT (p.Ala714Profs) rs1555573039
NM_000088.3(COL1A1):c.2217delA (p.Pro741Leufs) rs1555573004
NM_000088.3(COL1A1):c.2299G>A (p.Gly767Ser) rs72651658
NM_000088.3(COL1A1):c.229G>T (p.Glu77Ter) rs753683126
NM_000088.3(COL1A1):c.2344-1G>A
NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.3(COL1A1):c.2424_2425insCG (p.Gly809Argfs)
NM_000088.3(COL1A1):c.2424delC (p.Gly809Alafs)
NM_000088.3(COL1A1):c.2450delC (p.Pro817Leufs) rs193922149
NM_000088.3(COL1A1):c.2461G>A (p.Gly821Ser) rs67693970
NM_000088.3(COL1A1):c.2534G>C (p.Gly845Ala) rs1555572640
NM_000088.3(COL1A1):c.2560G>C (p.Gly854Arg)
NM_000088.3(COL1A1):c.2644C>T (p.Arg882Ter) rs72653147
NM_000088.3(COL1A1):c.2684delC (p.Pro895Leufs) rs72653151
NM_000088.3(COL1A1):c.2684dup (p.Gly896Trpfs)
NM_000088.3(COL1A1):c.2783_2788delCTGGCCinsTGGCG (p.Pro928Leufs) rs1555572456
NM_000088.3(COL1A1):c.2784delT (p.Gly929Alafs) rs72653155
NM_000088.3(COL1A1):c.2908_2911delAGAG (p.Arg970Alafs) rs1555572401
NM_000088.3(COL1A1):c.2T>C (p.Met1Thr)
NM_000088.3(COL1A1):c.3008delC (p.Pro1003Leufs)
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3045+1G>A rs1114167382
NM_000088.3(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.3(COL1A1):c.3207+1G>A rs1555572239
NM_000088.3(COL1A1):c.3207+1G>C rs1555572239
NM_000088.3(COL1A1):c.3225delC (p.Gly1076Valfs)
NM_000088.3(COL1A1):c.3235G>A (p.Gly1079Ser) rs72654802
NM_000088.3(COL1A1):c.3283_3284dup (p.Asp1095Glufs) rs1555572121
NM_000088.3(COL1A1):c.3285dup (p.Lys1096Glnfs) rs1555572120
NM_000088.3(COL1A1):c.334-9A>G
NM_000088.3(COL1A1):c.3431dup (p.Gly1145Trpfs) rs1555571942
NM_000088.3(COL1A1):c.3531+1G>A
NM_000088.3(COL1A1):c.3540dup (p.Gly1181Argfs) rs1555571874
NM_000088.3(COL1A1):c.3566dup (p.Gly1190Trpfs)
NM_000088.3(COL1A1):c.3567delT (p.Gly1190Valfs) rs886042286
NM_000088.3(COL1A1):c.3593delT (p.Phe1198Serfs)
NM_000088.3(COL1A1):c.3641delG (p.Arg1214Profs)
NM_000088.3(COL1A1):c.3647A>G (p.Tyr1216Cys) rs1555571849
NM_000088.3(COL1A1):c.3825G>A (p.Trp1275Ter) rs1555571766
NM_000088.3(COL1A1):c.387delT (p.Gly130Alafs) rs1555575086
NM_000088.3(COL1A1):c.3936G>A (p.Trp1312Ter) rs72656343
NM_000088.3(COL1A1):c.3G>A (p.Met1Ile)
NM_000088.3(COL1A1):c.4090C>T (p.Gln1364Ter) rs1555571647
NM_000088.3(COL1A1):c.4321_4327dup (p.Ala1443Glyfs) rs1555571529
NM_000088.3(COL1A1):c.4329_4332dup (p.Leu1445Profs) rs1114167405
NM_000088.3(COL1A1):c.481_499dup (p.Tyr167Serfs) rs1555574871
NM_000088.3(COL1A1):c.563_564delGTinsA (p.Gly188Aspfs) rs1555574802
NM_000088.3(COL1A1):c.571G>A (p.Gly191Ser)
NM_000088.3(COL1A1):c.572delG (p.Gly191Alafs)
NM_000088.3(COL1A1):c.599G>T (p.Gly200Val) rs72667029
NM_000088.3(COL1A1):c.608G>T (p.Gly203Val) rs72667031
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.678delT (p.Gly227Glufs) rs1555574638
NM_000088.3(COL1A1):c.697-1G>A
NM_000088.3(COL1A1):c.697-1G>C
NM_000088.3(COL1A1):c.731_732insC (p.Gly245Trpfs) rs1555574553
NM_000088.3(COL1A1):c.751-1G>A rs1555574516
NM_000088.3(COL1A1):c.757C>T (p.Arg253Ter) rs72645318
NM_000088.3(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.3(COL1A1):c.770delG (p.Gly257Glufs) rs1555574497
NM_000088.3(COL1A1):c.802A>T (p.Arg268Ter)
NM_000088.3(COL1A1):c.841_848del (p.Gly281Trpfs)
NM_000088.3(COL1A1):c.862G>T (p.Glu288Ter) rs72645341
NM_000088.3(COL1A1):c.903+1G>A rs1298621011
NM_000088.3(COL1A1):c.920_926delCTGGTGAinsTGAGAGGT (p.Pro307Leufs)
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.3(COL1A1):c.962dup (p.Arg322Serfs) rs1555574319
NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) rs72645357

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