ClinVar Miner

List of variants in gene COL5A2 reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06734
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495 0.04238
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01199
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00125
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000393.5(COL5A2):c.798+10C>T rs368165817 0.00047
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00045
NM_000393.5(COL5A2):c.3310-17T>A rs201791446 0.00038
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575 0.00014
NM_000393.5(COL5A2):c.1977+12T>G rs202204374 0.00011
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000393.5(COL5A2):c.1716+9A>G rs201934598 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.567+17G>T rs780672109 0.00006
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00004
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 0.00004
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser) rs1388564782 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg) rs149305351 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702 0.00003
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg) rs374402209 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00001
NM_000393.5(COL5A2):c.383G>A (p.Arg128His) rs757439328 0.00001
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly) rs780865605 0.00001
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val) rs76148000
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
NM_000393.5(COL5A2):c.1717-9dup
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
NM_000393.5(COL5A2):c.1869+12G>A
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12dup
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3310-19dup rs767565265
NM_000393.5(COL5A2):c.3363+17del
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.961-11dup rs542134887
NM_000393.5(COL5A2):c.961-3del rs542134887

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.