ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.5068-170C>T rs73664157 0.02947
NM_000093.5(COL5A1):c.4955-137C>T rs72774480 0.02351
NM_000093.5(COL5A1):c.4554+307C>A rs117105170 0.01783
NM_000093.5(COL5A1):c.5068-128C>A rs113810157 0.01372
NM_000093.5(COL5A1):c.5067+47G>A rs78846229 0.01207
NM_000093.5(COL5A1):c.5068-85A>G rs112132700 0.01168
NM_000093.5(COL5A1):c.4447-44C>T rs112700360 0.01108
NM_000093.5(COL5A1):c.4554+102C>T rs73561955 0.01101
NM_000093.5(COL5A1):c.5068-260T>C rs13294921 0.01075
NM_000093.5(COL5A1):c.5068-96G>A rs112225289 0.01043
NM_000093.5(COL5A1):c.4447-101C>T rs80224569 0.00955
NM_000093.5(COL5A1):c.4698+289C>T rs115080537 0.00920
NM_000093.5(COL5A1):c.5136+152C>T rs113504942 0.00827
NM_000093.5(COL5A1):c.4699-60C>T rs78125481 0.00777
NM_000093.5(COL5A1):c.4954+21G>T rs143914892 0.00669
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.4609-280del rs1171345687 0.00570
NM_000093.5(COL5A1):c.5371-46C>T rs73664167 0.00567
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.4447-349G>A rs149799871 0.00556
NM_000093.5(COL5A1):c.4609-281T>G rs542541481 0.00522
NM_000093.5(COL5A1):c.4608+232C>T rs141398004 0.00507
NM_000093.5(COL5A1):c.5370+279G>T rs542725585 0.00481
NM_000093.5(COL5A1):c.4955-48G>A rs60879388 0.00480
NM_000093.5(COL5A1):c.4698+136G>A rs369932934 0.00477
NM_000093.5(COL5A1):c.4698+154G>A rs181768633 0.00473
NM_000093.5(COL5A1):c.5136+192G>A rs73561989 0.00466
NM_000093.5(COL5A1):c.5068-86A>G rs552183981 0.00457
NM_000093.5(COL5A1):c.4954+242C>G rs114261060 0.00448
NM_000093.5(COL5A1):c.4698+121C>T rs145056122 0.00425
NM_000093.5(COL5A1):c.4954+230C>T rs73561969 0.00334
NM_000093.5(COL5A1):c.4554+247C>G rs535186026 0.00328
NM_000093.5(COL5A1):c.4954+128A>G rs111413734 0.00325
NM_000093.5(COL5A1):c.4609-34G>A rs115403176 0.00256
NM_000093.5(COL5A1):c.4554+105C>T rs533312238 0.00172
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057 0.00034
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=) rs140031713 0.00022
NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056 0.00012
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.5136+73G>A rs560195385 0.00011
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) rs368782334 0.00010
NM_000093.5(COL5A1):c.5136+55A>G rs374114460 0.00009
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) rs367657505 0.00009
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.*8C>T rs375921390 0.00005
NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) rs147904867 0.00005
NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) rs372971566 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=) rs149981025 0.00004
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) rs747118500 0.00004
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=) rs765397184 0.00004
NM_000093.5(COL5A1):c.4518T>C (p.Pro1506=) rs750313963 0.00003
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) rs760426595 0.00003
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=) rs764817290 0.00002
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=) rs200515325 0.00002
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=) rs140744620 0.00002
NM_000093.5(COL5A1):c.5068-13G>A rs761059323 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.4609-272C>A rs113171199
NM_000093.5(COL5A1):c.4609-279_4609-278insCCC rs370666409
NM_000093.5(COL5A1):c.4644+40G>C rs200471891
NM_000093.5(COL5A1):c.4645-13T>G rs1172969421
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) rs998985081
NM_000093.5(COL5A1):c.5068-141C>A rs112040689
NM_000093.5(COL5A1):c.5136+77G>A rs377732839
NM_000093.5(COL5A1):c.5137-7C>G rs376750863
NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=)
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495

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.