ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000093.5(COL5A1):c.5068-170C>T rs73664157 0.02947
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_000093.5(COL5A1):c.4955-137C>T rs72774480 0.02351
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_000093.5(COL5A1):c.4554+307C>A rs117105170 0.01783
NM_000093.5(COL5A1):c.*1637C>A rs148823980 0.01576
NM_000093.5(COL5A1):c.*1806C>T rs11556648 0.01480
NM_000093.5(COL5A1):c.*660G>A rs73664168 0.01440
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.5190C>T (p.Phe1730=) rs61729481 0.01170
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.*629A>G rs150345666 0.00897
NM_000093.5(COL5A1):c.5136+152C>T rs113504942 0.00827
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.4699-60C>T rs78125481 0.00777
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
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.*14C>T rs12553247 0.00580
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.5137-11T>C rs183495554 0.00512
NM_000093.5(COL5A1):c.4608+232C>T rs141398004 0.00507
NM_000093.5(COL5A1):c.*190G>A rs55748801 0.00500
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.5270C>T (p.Thr1757Met) rs2229817 0.00346
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.4968C>T (p.Val1656=) rs201871481 0.00012
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.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.4518T>C (p.Pro1506=) rs750313963 0.00001
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.4447-19T>C rs1554806958
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
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.4692C>T (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) rs998985081
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) rs560774273
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

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