ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Gene type:
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Total variants: 8
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NM_000093.4(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_000093.4(COL5A1):c.2646+12C>T rs751662116
NM_000093.4(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.4302C>T (p.Pro1434=) rs755495352
NM_000093.4(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697

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