ClinVar Miner

List of variants in gene COL4A1 reported as uncertain significance by Rare Disease Group, Clinical Genetics,Karolinska Institutet

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Gene type:
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Total variants: 2
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HGVS dbSNP
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr) rs762408881
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222

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