ClinVar Miner

List of variants in gene COL5A1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 12
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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.1351G>A (p.Glu451Lys) rs755546104
NM_000093.4(COL5A1):c.145C>T (p.His49Tyr) rs372168541
NM_000093.4(COL5A1):c.2382C>T (p.Val794=) rs758190171
NM_000093.4(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.4(COL5A1):c.2765G>T (p.Gly922Val) rs1564463870
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206
NM_000093.4(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748
NM_000093.4(COL5A1):c.683C>T (p.Ser228Leu) rs770737485
NM_000093.4(COL5A1):c.691C>T (p.Arg231Trp) rs775853003

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