ClinVar Miner

List of variants studied for proteinuria by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016341.4(PLCE1):c.3595G>A (p.Gly1199Ser) rs199781223 0.00127
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_016341.4(PLCE1):c.3281G>T (p.Gly1094Val) rs61732523

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