ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 14
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HGVS dbSNP
NM_000093.4(COL5A1):c.4473C>T (p.Ile1491=) rs537768945
NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_000093.4(COL5A1):c.4788G>C (p.Gly1596=) rs138436047
NM_000093.4(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734
NM_000093.4(COL5A1):c.5068-7T>C rs113256540
NM_000093.4(COL5A1):c.5137-11T>C rs183495554
NM_000093.4(COL5A1):c.5469G>C (p.Ala1823=) rs367657505
NM_001278074.1(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_001278074.1(COL5A1):c.4699-6C>T rs113090154
NM_001278074.1(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_001278074.1(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_001278074.1(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_001278074.1(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495

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