ClinVar Miner

List of variants in gene COL5A1 reported as likely benign for not provided

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Total variants: 88
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HGVS dbSNP
NC_000009.12:g.134763761C>T
NC_000009.12:g.134796356dup
NM_000093.4(COL5A1):c.-110A>G rs180741151
NM_000093.4(COL5A1):c.109+296A>G
NM_000093.4(COL5A1):c.1164+94C>T
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.1263C>T (p.Tyr421=) rs373846823
NM_000093.4(COL5A1):c.1389+139G>A
NM_000093.4(COL5A1):c.1390-277C>T
NM_000093.4(COL5A1):c.1773+130C>T
NM_000093.4(COL5A1):c.1827+94G>T
NM_000093.4(COL5A1):c.1881+173G>A
NM_000093.4(COL5A1):c.1882-272C>T
NM_000093.4(COL5A1):c.1936-170G>A
NM_000093.4(COL5A1):c.2133+73G>A
NM_000093.4(COL5A1):c.2181C>T (p.Gly727=)
NM_000093.4(COL5A1):c.2187+101C>T
NM_000093.4(COL5A1):c.2196A>G (p.Pro732=)
NM_000093.4(COL5A1):c.2253C>T (p.Gly751=)
NM_000093.4(COL5A1):c.2286+223G>C
NM_000093.4(COL5A1):c.2287-180G>A
NM_000093.4(COL5A1):c.2331+11G>A
NM_000093.4(COL5A1):c.2332-177G>A
NM_000093.4(COL5A1):c.2332-20C>T
NM_000093.4(COL5A1):c.2385+15C>T
NM_000093.4(COL5A1):c.2430+4A>C
NM_000093.4(COL5A1):c.2431-289C>G
NM_000093.4(COL5A1):c.2431-295_2431-294del
NM_000093.4(COL5A1):c.2431-57C>T
NM_000093.4(COL5A1):c.2484+14G>A
NM_000093.4(COL5A1):c.2485-199G>A
NM_000093.4(COL5A1):c.2485-201C>T
NM_000093.4(COL5A1):c.2485-90T>C
NM_000093.4(COL5A1):c.2592+314C>T
NM_000093.4(COL5A1):c.2646+216G>A
NM_000093.4(COL5A1):c.2646+91C>T
NM_000093.4(COL5A1):c.2647-250C>T
NM_000093.4(COL5A1):c.277+146G>A
NM_000093.4(COL5A1):c.278-50T>C
NM_000093.4(COL5A1):c.2799+33G>A
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2845-11T>C
NM_000093.4(COL5A1):c.2845-90G>A
NM_000093.4(COL5A1):c.2898+114C>T
NM_000093.4(COL5A1):c.2899-72G>A
NM_000093.4(COL5A1):c.2953-301G>C
NM_000093.4(COL5A1):c.3007-96G>A
NM_000093.4(COL5A1):c.3115-108C>T
NM_000093.4(COL5A1):c.3115-67G>A
NM_000093.4(COL5A1):c.3258+258T>C
NM_000093.4(COL5A1):c.3259-99A>T
NM_000093.4(COL5A1):c.3366+245C>A
NM_000093.4(COL5A1):c.3367-281C>T
NM_000093.4(COL5A1):c.3367-86C>T
NM_000093.4(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_000093.4(COL5A1):c.3465C>T (p.Asp1155=) rs145134399
NM_000093.4(COL5A1):c.3744+39C>T
NM_000093.4(COL5A1):c.3853-125C>A
NM_000093.4(COL5A1):c.3853-50G>A
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3870A>G (p.Ala1290=)
NM_000093.4(COL5A1):c.3906+34A>G
NM_000093.4(COL5A1):c.4014+209A>G
NM_000093.4(COL5A1):c.4015-212C>T
NM_000093.4(COL5A1):c.4015-30C>T
NM_000093.4(COL5A1):c.4068+11A>G
NM_000093.4(COL5A1):c.4122+97C>A
NM_000093.4(COL5A1):c.4123-302C>G
NM_000093.4(COL5A1):c.4123-303C>A
NM_000093.4(COL5A1):c.4177-151G>T
NM_000093.4(COL5A1):c.491+92C>T
NM_000093.4(COL5A1):c.492-16A>G
NM_000093.4(COL5A1):c.492-76C>G
NM_000093.4(COL5A1):c.558G>A (p.Lys186=) rs1564397188
NM_000093.4(COL5A1):c.654+105G>A
NM_000093.4(COL5A1):c.655-106G>A
NM_000093.4(COL5A1):c.787-181C>T
NM_000093.4(COL5A1):c.787-8G>A
NM_000093.4(COL5A1):c.787-99G>A
NM_000093.4(COL5A1):c.849C>T (p.Pro283=)
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.888C>T (p.Pro296=)
NM_000093.4(COL5A1):c.921C>T (p.Pro307=) rs144335980
NM_000093.4(COL5A1):c.924+148G>C
NM_000093.4(COL5A1):c.924+297C>A
NM_000093.4(COL5A1):c.925-180C>T
NM_000093.4(COL5A1):c.925-63C>T
NM_000093.4(COL5A1):c.987G>A (p.Lys329=)

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