ClinVar Miner

List of variants in gene COL4A5 reported by Molecular Diagnostics Laboratory,M Health: University of Minnesota

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Total variants: 5
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HGVS dbSNP
NM_000495.5(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_000495.5(COL4A5):c.3177del (p.Gly1060fs) rs1569499015
NM_000495.5(COL4A5):c.3178G>T (p.Gly1060Ter) rs104886217
NM_000495.5(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713
NM_000495.5(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228

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