ClinVar Miner

List of variants in gene COL4A1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 11
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HGVS dbSNP
NM_001845.5(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845
NM_001845.5(COL4A1):c.2141G>A (p.Gly714Asp) rs1064797179
NM_001845.5(COL4A1):c.2313G>A (p.Ala771=) rs781701888
NM_001845.5(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.5(COL4A1):c.3133G>A (p.Ala1045Thr) rs1057519214
NM_001845.5(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496
NM_001845.5(COL4A1):c.4803C>T (p.Pro1601=) rs190097900
NM_001845.5(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532
NM_001845.5(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg)
NM_001845.6(COL4A1):c.801A>C (p.Gly267=)

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