ClinVar Miner

List of variants in gene COL5A1, LOC101448202 studied for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP
NC_000009.11:g.(?_137593017)_(137727050_?)del
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.11:g.(?_137726797)_(137727070_?)del
NC_000009.11:g.(?_137733983)_(137734169_?)del
NM_000093.4(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.4(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.4(COL5A1):c.4467G>T (p.Gly1489=) rs878853653
NM_000093.4(COL5A1):c.4473C>T (p.Ile1491=) rs537768945
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.4(COL5A1):c.4487A>G (p.Glu1496Gly)
NM_000093.4(COL5A1):c.4495G>A (p.Glu1499Lys) rs1060502261
NM_000093.4(COL5A1):c.4507C>T (p.Arg1503Cys) rs200987038
NM_000093.4(COL5A1):c.4508G>A (p.Arg1503His) rs373653069
NM_000093.4(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561
NM_000093.4(COL5A1):c.4536C>T (p.Ser1512=) rs367711669
NM_000093.4(COL5A1):c.4545_4549dup (p.Glu1517fs)
NM_000093.4(COL5A1):c.4554+1G>C rs1564482508
NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_000093.4(COL5A1):c.4573G>A (p.Gly1525Ser) rs1564484053
NM_000093.4(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954
NM_000093.4(COL5A1):c.4612C>A (p.Pro1538Thr) rs1554807720
NM_000093.4(COL5A1):c.4614G>A (p.Pro1538=) rs762698462
NM_000093.4(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_000093.4(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460
NM_000093.4(COL5A1):c.4654G>A (p.Gly1552Ser) rs1554807811
NM_000093.4(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_000093.4(COL5A1):c.4676A>C (p.His1559Pro)
NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_000093.4(COL5A1):c.4693C>T (p.Pro1565Ser)
NM_000093.4(COL5A1):c.4698+9C>T rs753030199
NM_000093.4(COL5A1):c.4698G>A (p.Pro1566=) rs147904867
NM_000093.4(COL5A1):c.4699-6C>T rs113090154
NM_000093.4(COL5A1):c.4706C>T (p.Pro1569Leu)
NM_000093.4(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943
NM_000093.4(COL5A1):c.4719C>T (p.Ile1573=) rs966533667
NM_000093.4(COL5A1):c.4739C>T (p.Ala1580Val)
NM_000093.4(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410
NM_000093.4(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.4(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881
NM_000093.4(COL5A1):c.4788G>C (p.Gly1596=) rs138436047
NM_000093.4(COL5A1):c.4791T>C (p.Asn1597=) rs886063677
NM_000093.4(COL5A1):c.4804G>A (p.Val1602Met) rs201771867
NM_000093.4(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) rs752240390
NM_000093.4(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734
NM_000093.4(COL5A1):c.4836C>T (p.Phe1612=) rs183904215
NM_000093.4(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147
NM_000093.4(COL5A1):c.4880G>A (p.Arg1627Gln)
NM_000093.4(COL5A1):c.4887G>A (p.Leu1629=)
NM_000093.4(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
NM_000093.4(COL5A1):c.4897C>G (p.Gln1633Glu)
NM_000093.4(COL5A1):c.4905C>T (p.Pro1635=) rs760426595
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375
NM_000093.4(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_000093.4(COL5A1):c.4910G>A (p.Arg1637His) rs199998065
NM_000093.4(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_000093.4(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.4(COL5A1):c.4927C>T (p.Gln1643Ter)
NM_000093.4(COL5A1):c.4940C>T (p.Pro1647Leu)
NM_000093.4(COL5A1):c.4941C>T (p.Pro1647=) rs747549921
NM_000093.4(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518
NM_000093.4(COL5A1):c.4954+4A>G rs1564487377
NM_000093.4(COL5A1):c.4954+6G>C rs1031138847
NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_000093.4(COL5A1):c.4990A>G (p.Arg1664Gly)
NM_000093.4(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.4(COL5A1):c.5033C>G (p.Ser1678Trp)
NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_000093.4(COL5A1):c.5039G>T (p.Cys1680Phe)
NM_000093.4(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065
NM_000093.4(COL5A1):c.5067+7A>G rs374122742
NM_000093.4(COL5A1):c.5068-7T>C rs113256540
NM_000093.4(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959
NM_000093.4(COL5A1):c.5137-11T>A rs183495554
NM_000093.4(COL5A1):c.5137-11T>C rs183495554
NM_000093.4(COL5A1):c.5141_5143del (p.Ser1714del) rs1060502250
NM_000093.4(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_000093.4(COL5A1):c.5155G>T (p.Glu1719Ter)
NM_000093.4(COL5A1):c.5159G>T (p.Gly1720Val) rs1243519195
NM_000093.4(COL5A1):c.5162A>G (p.Asn1721Ser) rs1482037877
NM_000093.4(COL5A1):c.5182A>G (p.Met1728Val) rs138068984
NM_000093.4(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_000093.4(COL5A1):c.5204G>A (p.Ser1735Asn)
NM_000093.4(COL5A1):c.5223C>T (p.Asn1741=) rs144081161
NM_000093.4(COL5A1):c.5224G>A (p.Val1742Ile)
NM_000093.4(COL5A1):c.5234A>G (p.His1745Arg) rs370607849
NM_000093.4(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_000093.4(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_000093.4(COL5A1):c.5271G>A (p.Thr1757=) rs142886387
NM_000093.4(COL5A1):c.5280C>T (p.Tyr1760=) rs767284056
NM_000093.4(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883
NM_000093.4(COL5A1):c.5298C>T (p.Phe1766=) rs1231716528
NM_000093.4(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_000093.4(COL5A1):c.5303G>A (p.Gly1768Asp)
NM_000093.4(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_000093.4(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.4(COL5A1):c.5326T>C (p.Tyr1776His)
NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_000093.4(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
NM_000093.4(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
NM_000093.4(COL5A1):c.5339C>A (p.Pro1780His) rs746104317
NM_000093.4(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_000093.4(COL5A1):c.5349C>T (p.Arg1783=) rs140031713
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.5371-8T>C rs1352923765
NM_000093.4(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611
NM_000093.4(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495
NM_000093.4(COL5A1):c.5420T>A (p.Val1807Glu)
NM_000093.4(COL5A1):c.5432C>T (p.Pro1811Leu) rs1554727362
NM_000093.4(COL5A1):c.5437G>A (p.Val1813Met) rs755914340
NM_000093.4(COL5A1):c.5461G>A (p.Gly1821Ser) rs773709219
NM_000093.4(COL5A1):c.5469G>C (p.Ala1823=) rs367657505
NM_000093.4(COL5A1):c.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.4(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226
NM_000093.4(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704
NM_000093.4(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246
NM_000093.4(COL5A1):c.5514C>T (p.Gly1838=) rs1060504530
NM_001278074.1(COL5A1):c.5370+3_5370+6del rs786200923

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