ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance for Ehlers-Danlos syndrome, classic type

Included ClinVar conditions (2):
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Total variants: 47
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HGVS dbSNP
NC_000009.12:g.(?_134829956)_(134842323_?)dup
NC_000009.12:g.(?_134842137)_(134842323_?)del
NM_000093.4(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.4(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
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.4573G>A (p.Gly1525Ser)
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.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.4693C>T (p.Pro1565Ser)
NM_000093.4(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943
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.4804G>A (p.Val1602Met) rs201771867
NM_000093.4(COL5A1):c.4805_4813dup (p.Tyr1604_Ala1605insValAspTyr) rs752240390
NM_000093.4(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683
NM_000093.4(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375
NM_000093.4(COL5A1):c.4911C>T (p.Arg1637=) rs778483767
NM_000093.4(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518
NM_000093.4(COL5A1):c.4954+4A>G
NM_000093.4(COL5A1):c.4954+6G>C rs1031138847
NM_000093.4(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.4(COL5A1):c.5033C>G (p.Ser1678Trp)
NM_000093.4(COL5A1):c.5060C>A (p.Ser1687Tyr) rs150083065
NM_000093.4(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959
NM_000093.4(COL5A1):c.5159G>T (p.Gly1720Val)
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.5234A>G (p.His1745Arg) rs370607849
NM_000093.4(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883
NM_000093.4(COL5A1):c.5317delG (p.Glu1773Argfs) rs1554726283
NM_000093.4(COL5A1):c.5321T>C (p.Met1774Thr) rs1554726285
NM_000093.4(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603
NM_000093.4(COL5A1):c.5348G>A (p.Arg1783His) rs777045810
NM_000093.4(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611
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.5495G>A (p.Gly1832Glu) rs1554727410
NM_000093.4(COL5A1):c.5497C>T (p.Pro1833Ser) rs370789226
NM_000093.4(COL5A1):c.5498dup (p.Ala1834Glyfs)
NM_000093.4(COL5A1):c.5504G>C (p.Cys1835Ser) rs1060502246

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