ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by Blueprint Genetics,

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Total variants: 13
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HGVS dbSNP
NM_000093.4(COL5A1):c.1222A>G (p.Thr408Ala)
NM_000093.4(COL5A1):c.2044G>A (p.Gly682Ser)
NM_000093.4(COL5A1):c.2524C>A (p.Pro842Thr)
NM_000093.4(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246
NM_000093.4(COL5A1):c.3055C>T (p.Pro1019Ser)
NM_000093.4(COL5A1):c.3254C>T (p.Pro1085Leu)
NM_000093.4(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_000093.4(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094
NM_000093.4(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.4(COL5A1):c.409G>T (p.Val137Phe)
NM_000093.4(COL5A1):c.4126T>C (p.Ser1376Pro) rs869025373
NM_000093.4(COL5A1):c.4319G>A (p.Arg1440Gln)
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262

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