ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.4315+1G>A rs587776403 0.00001
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.2288G>A (p.Gly763Glu) rs281874689
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser) rs1556403112

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