ClinVar Miner

List of variants in gene COL5A1 reported as likely pathogenic

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Total variants: 28
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HGVS dbSNP
NC_000009.11:g.(?_137582738)_(137593199_?)dup
NM_000093.4(COL5A1):c.1720-11T>A rs863223444
NM_000093.4(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
NM_000093.4(COL5A1):c.2386-3C>G rs1564453831
NM_000093.4(COL5A1):c.2484+1G>T rs1564455577
NM_000093.4(COL5A1):c.2504G>C (p.Gly835Ala) rs1554799402
NM_000093.4(COL5A1):c.2700+2T>C
NM_000093.4(COL5A1):c.273C>A (p.Tyr91Ter) rs1341789008
NM_000093.4(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_000093.4(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874
NM_000093.4(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.4(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.4(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117
NM_000093.4(COL5A1):c.3350G>C (p.Gly1117Ala) rs863223448
NM_000093.4(COL5A1):c.3529-1G>T
NM_000093.4(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4069-1G>T rs1564478485
NM_000093.4(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_000093.4(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_000093.4(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670
NM_000093.4(COL5A1):c.655-1917_690del
NM_000093.4(COL5A1):c.655-1G>C rs1554787526
NM_001278074.1(COL5A1):c.1496G>C (p.Gly499Ala) rs1554792005
NM_001278074.1(COL5A1):c.2903del (p.Pro968fs) rs1057518871
NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_001278074.1(COL5A1):c.841del (p.Glu281fs) rs1554787779

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