ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_000093.4(COL5A1):c.1720-11T>A rs863223444
NM_000093.4(COL5A1):c.2140C>T (p.Gln714Ter) rs1554796176
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.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.4(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.4(COL5A1):c.4230G>C (p.Lys1410Asn) rs863223453
NM_000093.4(COL5A1):c.4402G>A (p.Gly1468Arg) rs1554806670

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