ClinVar Miner

List of variants studied for X-linked Alport syndrome by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000495.5(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_000495.5(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_000495.5(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112
NM_000495.5(COL4A5):c.4297+1G>A rs587776403

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