ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as likely benign for Ehlers-Danlos syndrome, classic type, 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
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.5349C>T (p.Arg1783=) rs140031713 0.00022
NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro) rs768691969 0.00021
NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065 0.00018
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000093.5(COL5A1):c.4954+16G>A rs370938164 0.00015
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.4643C>T (p.Ser1548Leu) rs147398633 0.00011
NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His) rs199998065 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000093.5(COL5A1):c.5370+13C>T rs368524277 0.00009
NM_000093.5(COL5A1):c.5137-7C>T rs376750863 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=) rs144081161 0.00007
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) rs142886387 0.00007
NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=) rs144672706 0.00006
NM_000093.5(COL5A1):c.4609-18G>A rs759466196 0.00005
NM_000093.5(COL5A1):c.4645-16T>C rs373762865 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.4521C>T (p.Gly1507=) rs552985514 0.00004
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) rs367711669 0.00004
NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=) rs999637196 0.00004
NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=) rs149981025 0.00004
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met) rs201771867 0.00004
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679 0.00004
NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=) rs759203958 0.00004
NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) rs747118500 0.00004
NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029 0.00004
NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=) rs776090002 0.00004
NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=) rs765397184 0.00004
NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=) rs966533667 0.00003
NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=) rs183904215 0.00003
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) rs760426595 0.00003
NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=) rs771317760 0.00003
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu) rs773728118 0.00002
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) rs373653069 0.00002
NM_000093.5(COL5A1):c.4608+19C>T rs200797820 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu) rs780846555 0.00002
NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=) rs370009851 0.00002
NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu) rs140669047 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg) rs768184058 0.00002
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=) rs371875408 0.00002
NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=) rs751537287 0.00002
NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser) rs747231282 0.00002
NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn) rs773055539 0.00002
NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=) rs764817290 0.00002
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) rs746104317 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000093.5(COL5A1):c.5436C>T (p.Ile1812=) rs140744620 0.00002
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=) rs768460206 0.00002
NM_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038 0.00001
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala) rs1008518818 0.00001
NM_000093.5(COL5A1):c.4554+12G>A rs777162668 0.00001
NM_000093.5(COL5A1):c.4555-8C>T rs1393610396 0.00001
NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=) rs770238710 0.00001
NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=) rs774464652 0.00001
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=) rs762698462 0.00001
NM_000093.5(COL5A1):c.4644+11T>C rs559588659 0.00001
NM_000093.5(COL5A1):c.4644+16C>T rs376268793 0.00001
NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro) rs376821494 0.00001
NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=) rs1457901052 0.00001
NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=) rs775725420 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn) rs748610273 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu) rs754447923 0.00001
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr) rs863223461 0.00001
NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=) rs367902089 0.00001
NM_000093.5(COL5A1):c.5033C>G (p.Ser1678Trp) rs145299315 0.00001
NM_000093.5(COL5A1):c.5067+7A>G rs374122742 0.00001
NM_000093.5(COL5A1):c.5068-13G>A rs761059323 0.00001
NM_000093.5(COL5A1):c.5068-9C>T rs572218532 0.00001
NM_000093.5(COL5A1):c.5099C>T (p.Pro1700Leu) rs751699482 0.00001
NM_000093.5(COL5A1):c.5136+17C>T rs765571792 0.00001
NM_000093.5(COL5A1):c.5137-5C>T rs748416238 0.00001
NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528 0.00001
NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His) rs778249693 0.00001
NM_000093.5(COL5A1):c.5358G>T (p.Val1786=) rs766205598 0.00001
NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser) rs759291514 0.00001
NM_000093.5(COL5A1):c.5370+12G>A rs752141684 0.00001
NM_000093.5(COL5A1):c.5421G>A (p.Val1807=) rs1245708449 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=) rs748940142 0.00001
NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp) rs1251114548 0.00001
NM_000093.5(COL5A1):c.4447-10T>G rs1227842888
NM_000093.5(COL5A1):c.4447-16C>T
NM_000093.5(COL5A1):c.4447-17T>C
NM_000093.5(COL5A1):c.4447-18G>A
NM_000093.5(COL5A1):c.4447-18G>C
NM_000093.5(COL5A1):c.4447-19T>C rs1554806958
NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr)
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu)
NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=)
NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=)
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=)
NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=)
NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser) rs148687561
NM_000093.5(COL5A1):c.4530C>A (p.Gly1510=)
NM_000093.5(COL5A1):c.4530C>G (p.Gly1510=)
NM_000093.5(COL5A1):c.4554+16C>A
NM_000093.5(COL5A1):c.4554+16C>T
NM_000093.5(COL5A1):c.4554+20T>C
NM_000093.5(COL5A1):c.4554+20T>G
NM_000093.5(COL5A1):c.4555-11G>T rs2132874427
NM_000093.5(COL5A1):c.4555-15T>A rs1057522149
NM_000093.5(COL5A1):c.4555-17T>A
NM_000093.5(COL5A1):c.4555-6T>C rs1588592849
NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=)
NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=) rs770238710
NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser)
NM_000093.5(COL5A1):c.4608+14A>C
NM_000093.5(COL5A1):c.4608+18G>A
NM_000093.5(COL5A1):c.4608+18G>C
NM_000093.5(COL5A1):c.4608+19C>G
NM_000093.5(COL5A1):c.4608+19del
NM_000093.5(COL5A1):c.4608+7A>G rs1554807494
NM_000093.5(COL5A1):c.4608+8T>C
NM_000093.5(COL5A1):c.4609-12CT[3]
NM_000093.5(COL5A1):c.4609-15C>T rs769679819
NM_000093.5(COL5A1):c.4609-6C>T rs1034866420
NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=) rs1588594834
NM_000093.5(COL5A1):c.4644+10A>C
NM_000093.5(COL5A1):c.4644+10A>G rs373032507
NM_000093.5(COL5A1):c.4644+20G>C
NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=)
NM_000093.5(COL5A1):c.4645-10_4645-7del rs2132879221
NM_000093.5(COL5A1):c.4645-12C>A
NM_000093.5(COL5A1):c.4645-17C>A
NM_000093.5(COL5A1):c.4645-21_4645-18del
NM_000093.5(COL5A1):c.4645-4C>T
NM_000093.5(COL5A1):c.4645-5C>T rs1308872784
NM_000093.5(COL5A1):c.4650A>G (p.Pro1550=)
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) rs778312075
NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=)
NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=)
NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=)
NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=)
NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=)
NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=) rs752029679
NM_000093.5(COL5A1):c.4698+16A>G rs1232246029
NM_000093.5(COL5A1):c.4698+6dup
NM_000093.5(COL5A1):c.4698+9C>A
NM_000093.5(COL5A1):c.4698+9C>T rs753030199
NM_000093.5(COL5A1):c.4699-14G>A
NM_000093.5(COL5A1):c.4699-15T>C
NM_000093.5(COL5A1):c.4699-19C>T
NM_000093.5(COL5A1):c.4713G>A (p.Glu1571=)
NM_000093.5(COL5A1):c.4716C>T (p.Val1572=)
NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met)
NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=)
NM_000093.5(COL5A1):c.4746G>A (p.Arg1582=)
NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu) rs531431738
NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=) rs139332528
NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=)
NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) rs1318402758
NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe)
NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr)
NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=) rs2132884435
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys) rs764446683
NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg) rs764446683
NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=) rs2132884637
NM_000093.5(COL5A1):c.4938C>T (p.His1646=)
NM_000093.5(COL5A1):c.4954+11G>C rs957818279
NM_000093.5(COL5A1):c.4954+11G>T
NM_000093.5(COL5A1):c.4954+15G>T rs2132884821
NM_000093.5(COL5A1):c.4954+17del
NM_000093.5(COL5A1):c.4955-15G>A
NM_000093.5(COL5A1):c.4955-20T>G
NM_000093.5(COL5A1):c.4968C>G (p.Val1656=) rs201871481
NM_000093.5(COL5A1):c.4998C>T (p.Ser1666=)
NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=) rs560774273
NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=)
NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=)
NM_000093.5(COL5A1):c.5049T>C (p.Pro1683=)
NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=)
NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=)
NM_000093.5(COL5A1):c.5067+18T>C
NM_000093.5(COL5A1):c.5068-14C>G
NM_000093.5(COL5A1):c.5068-14C>T
NM_000093.5(COL5A1):c.5068-19C>T
NM_000093.5(COL5A1):c.5068-20C>T rs908690867
NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly)
NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=) rs2132907681
NM_000093.5(COL5A1):c.5136+13C>T rs1839537836
NM_000093.5(COL5A1):c.5136+15G>A
NM_000093.5(COL5A1):c.5136+16G>T
NM_000093.5(COL5A1):c.5136+18G>A
NM_000093.5(COL5A1):c.5136+8G>C rs770378717
NM_000093.5(COL5A1):c.5137-12_5137-11del
NM_000093.5(COL5A1):c.5137-15C>A
NM_000093.5(COL5A1):c.5137-18A>G
NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=)
NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=) rs147434147
NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys)
NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=) rs1839798652
NM_000093.5(COL5A1):c.5217C>T (p.His1739=) rs869025374
NM_000093.5(COL5A1):c.5226C>T (p.Val1742=) rs1355725982
NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=) rs1564187943
NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe)
NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=) rs753245063
NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=) rs1375535475
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5358G>A (p.Val1786=)
NM_000093.5(COL5A1):c.5370+15C>T
NM_000093.5(COL5A1):c.5370+16C>T
NM_000093.5(COL5A1):c.5370+17G>A
NM_000093.5(COL5A1):c.5370+18C>T rs370535777
NM_000093.5(COL5A1):c.5370+19G>A
NM_000093.5(COL5A1):c.5371-10T>A
NM_000093.5(COL5A1):c.5371-15C>A
NM_000093.5(COL5A1):c.5371-4C>T
NM_000093.5(COL5A1):c.5371-6C>A
NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg)
NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg)
NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu)
NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=) rs1002314921
NM_000093.5(COL5A1):c.5430G>A (p.Val1810=)
NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu)
NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) rs367657505
NM_000093.5(COL5A1):c.5502T>C (p.Ala1834=)
NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530

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