ClinVar Miner

List of variants reported as likely pathogenic for Alport syndrome by Molecular Diagnostics Laboratory,M Health: University of Minnesota

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.4(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466
NM_000495.5(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_000495.5(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713

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