ClinVar Miner

List of variants in gene COL5A1 reported as benign by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000093.4(COL5A1):c.1092C>T (p.Pro364=) rs41306391
NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) rs61729545
NM_000093.4(COL5A1):c.1432-5T>C rs3128612
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.2430+20C>T rs3124932
NM_000093.4(COL5A1):c.2431-25G>A rs41310213
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2745+15A>T rs79481146
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.2952+11A>T rs4240707
NM_000093.4(COL5A1):c.3745-18G>A rs45556931
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4176+9T>G rs10858282
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.738C>T (p.Thr246=) rs3124299
NM_000093.4(COL5A1):c.787-15G>A rs150200872

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