ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by Center for Human Genetics, Inc

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Total variants: 13
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HGVS dbSNP
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.4(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_000093.4(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_000093.4(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_000093.4(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.4(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_000093.4(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_000093.4(COL5A1):c.492-3C>T rs1027866868
NM_000093.4(COL5A1):c.787-15G>A rs150200872

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