ClinVar Miner

List of variants in gene COL4A1 reported by Gharavi Laboratory, Columbia University

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.859-8_859del rs1360123079 0.00003
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter) rs1566351231
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg) rs766346293
NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser) rs1566342407
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) rs1566376798
NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs) rs1566376109
NM_001845.6(COL4A1):c.862_866del (p.Lys288fs) rs1566373199

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