ClinVar Miner

List of variants studied for autosomal dominant Alport syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.1459G>A (p.Gly487Ser) rs745472969 0.00006
NM_000091.5(COL4A3):c.1127C>T (p.Pro376Leu) rs760049264
NM_000091.5(COL4A3):c.3391G>A (p.Gly1131Ser)
NM_000091.5(COL4A3):c.3949G>A (p.Val1317Met)

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