ClinVar Miner

List of variants in gene COL5A1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_137534024)_(137620663_?)del
NC_000009.11:g.(?_137534034)_(137582945_?)del
NC_000009.11:g.(?_137582748)_(137677904_?)del
NC_000009.11:g.(?_137591735)_(137593199_?)del
NC_000009.11:g.(?_137593011)_(137727056_?)del
NC_000009.11:g.(?_137619102)_(137698152_?)dup
NC_000009.11:g.(?_137645560)_137650136del
NC_000009.11:g.(?_137664616)_(137734149_?)del
NC_000009.11:g.(?_137709604)_(137717770_?)del
NC_000009.11:g.(?_137733983)_(137734149_?)del
NC_000009.12:g.(?_134642178)_(134701343_?)del
NC_000009.12:g.(?_134690892)_(134763757_?)del
NC_000009.12:g.(?_134690902)_(134727407_?)del
NC_000009.12:g.(?_134699889)_(134700142_?)del
NC_000009.12:g.(?_134752569)_(134752665_?)del
NC_000009.12:g.(?_134782657)_(134842313_?)del
NC_000009.12:g.134765683del
NM_000093.4(COL5A1):c.2389delG rs1564453833
NM_000093.4(COL5A1):c.2594dup rs1837444858
NM_000093.4(COL5A1):c.3746delG rs35002351
NM_000093.4(COL5A1):c.4232delG rs1060502259
NM_000093.5(COL5A1):c.105del (p.Ala36fs) rs2132455125
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter) rs769752636
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs) rs1834837756
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro) rs2132455136
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs) rs1834879370
NM_000093.5(COL5A1):c.1364del (p.Lys455fs) rs1564418237
NM_000093.5(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter) rs2132683271
NM_000093.5(COL5A1):c.1630del (p.Ser544fs) rs2132683277
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter) rs201625736
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
NM_000093.5(COL5A1):c.1720-136_1929del
NM_000093.5(COL5A1):c.1727del (p.Pro576fs) rs1488498065
NM_000093.5(COL5A1):c.1728del (p.Ser578fs) rs2132689832
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter) rs2132690786
NM_000093.5(COL5A1):c.1937_1946del rs2132717812
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) rs1833258579
NM_000093.5(COL5A1):c.1989+1G>C rs1836462685
NM_000093.5(COL5A1):c.1A>G (p.Met1Val) rs2132454722
NM_000093.5(COL5A1):c.2034+1G>A rs886042173
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter) rs1060502258
NM_000093.5(COL5A1):c.2159del (p.Pro720fs) rs863223469
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter) rs1564446117
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs) rs1060502242
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) rs121912933
NM_000093.5(COL5A1):c.2386-3C>G rs1564453831
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter) rs1032017865
NM_000093.5(COL5A1):c.2430+1G>A rs1060502248
NM_000093.5(COL5A1):c.2430+1G>C
NM_000093.5(COL5A1):c.2553del (p.Asn852fs) rs1837406273
NM_000093.5(COL5A1):c.2565del (p.Gly856fs) rs1564457102
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter) rs1833261804
NM_000093.5(COL5A1):c.2660del (p.Phe887fs) rs1588551159
NM_000093.5(COL5A1):c.2701-25T>G rs765079080
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs) rs2132802457
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.5(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
NM_000093.5(COL5A1):c.2952+1G>C
NM_000093.5(COL5A1):c.2952+2_2952+3del rs1588562135
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs) rs1588448655
NM_000093.5(COL5A1):c.2988del (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.321del (p.Ala108fs) rs2132569651
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs) rs1838291478
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs) rs1564471440
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter) rs2132569692
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs) rs2132838808
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs) rs2132841152
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter) rs2132844990
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter) rs1307084213
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs) rs2132845192
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs) rs1564475090
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs) rs786205100
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter) rs748870349
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs) rs2132848313
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs) rs2132856138
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg) rs1838729952
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs) rs1060502255
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs) rs2132864123
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter) rs2132864295
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs) rs2132864817
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs) rs2132864836
NM_000093.5(COL5A1):c.4389del (p.Met1464fs) rs2132864849
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter) rs1588449879
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter) rs2132573338
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg) rs1831316527
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter) rs144844792
NM_000093.5(COL5A1):c.786+1G>A
NM_000093.5(COL5A1):c.786+5G>A rs2132632978
NM_000093.5(COL5A1):c.849del (p.Glu284fs) rs1588477255
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
NM_000093.5(COL5A1):c.876dup (p.Ser293fs) rs1834751333
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) rs1554803622

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.