ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 reported as pathogenic

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.134824601del rs1588597744
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg) rs1838935159
NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser) rs863223458
NM_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys) rs863223458
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del) rs1838936100
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs) rs1588589663
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs) rs2132874649
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs) rs1839084095
NM_000093.5(COL5A1):c.4638del (p.Ser1547fs) rs1839084305
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
NM_000093.5(COL5A1):c.4688del (p.Pro1563fs)
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) rs1131691996
NM_000093.5(COL5A1):c.4714del (p.Val1572fs) rs2132883536
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
NM_000093.5(COL5A1):c.4758del (p.Asn1586fs)
NM_000093.5(COL5A1):c.4830_4831dup (p.Ile1611fs)
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs) rs2132884146
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter) rs1219304070
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr) rs1554808357
NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs) rs2132887747
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs) rs2132887783
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
NM_000093.5(COL5A1):c.5137-11T>A rs183495554
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) rs776640704
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer) rs2132925550
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter) rs2132925640
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs) rs2132925682
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
NM_000093.5(COL5A1):c.5280del (p.Ser1759_Tyr1760insTer)
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs) rs1839803841
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs) rs1554726283
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs) rs1588615658
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs) rs2132926166
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) rs863223475
NM_000093.5(COL5A1):c.5370+3_5370+6del rs786200923
NM_000093.5(COL5A1):c.5371-11_*33delinsATGAAGCAAGC
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs) rs1830124408
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5415del (p.Val1807fs) rs2132943031
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter) rs2132943056
NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs) rs1564191682
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs) rs1564191704

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