ClinVar Miner

List of variants studied for Alport syndrome by Fundacion Rioja Salud,Center for Biomedical Research (CIBIR)

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000091.4(COL4A3):c.4382C>T (p.Pro1461Leu) rs760462252
NM_000091.4(COL4A3):c.4474A>T (p.Ser1492Cys) rs1057519377
NM_000091.4(COL4A3):c.998G>C (p.Gly333Ala) rs1057519376

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