ClinVar Miner

List of variants in gene COL5A1 reported as likely pathogenic by Invitae

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504 0.00010
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000093.5(COL5A1):c.1720-11T>A rs863223444 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NC_000009.11:g.(?_137676815)_(137677914_?)del
NM_000093.5(COL5A1):c.110-1G>C rs1833255504
NM_000093.5(COL5A1):c.1431+1G>A
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.1569+1G>A rs2132682690
NM_000093.5(COL5A1):c.1662+1G>A rs1835753446
NM_000093.5(COL5A1):c.1720-1G>A rs1835880166
NM_000093.5(COL5A1):c.1774-1G>A rs2132690733
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val) rs777506210
NM_000093.5(COL5A1):c.2034+2T>A
NM_000093.5(COL5A1):c.2429_2430+26del
NM_000093.5(COL5A1):c.2484+1G>T rs1564455577
NM_000093.5(COL5A1):c.2700+2T>C rs1588551226
NM_000093.5(COL5A1):c.2701-1G>A
NM_000093.5(COL5A1):c.3006+1G>A
NM_000093.5(COL5A1):c.3114+1G>A rs1838169083
NM_000093.5(COL5A1):c.3205-1G>C
NM_000093.5(COL5A1):c.3529-1G>T rs1588577214
NM_000093.5(COL5A1):c.4015-1G>A
NM_000093.5(COL5A1):c.4069-1G>T rs1564478485
NM_000093.5(COL5A1):c.4231-2A>G
NM_000093.5(COL5A1):c.4393-1G>A
NM_000093.5(COL5A1):c.474_491+24del
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.655-1917_690del
NM_000093.5(COL5A1):c.655-2A>G rs786205101
NM_000093.5(COL5A1):c.655-2A>T rs786205101
NM_000093.5(COL5A1):c.786+5G>T
NM_000093.5(COL5A1):c.925-2A>C rs2132639011

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