ClinVar Miner

List of variants reported as pathogenic for Alport syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_033380.3(COL4A5):c.1A>G (p.Met1Val) rs104886050

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