ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP
NC_000009.11:g.(?_137593017)_(137727050_?)del
NM_001278074.1(COL5A1):c.4466G>A (p.Gly1489Glu) rs121912932
NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs)
NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) rs1554807812
NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) rs1564487306
NM_001278074.1(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_001278074.1(COL5A1):c.4927C>T (p.Gln1643Ter)
NM_001278074.1(COL5A1):c.5137-11T>A rs183495554
NM_001278074.1(COL5A1):c.5155G>T (p.Glu1719Ter)
NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) rs1554726279
NM_001278074.1(COL5A1):c.5370+3_5370+6del rs786200923

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