ClinVar Miner

List of variants in gene EMP2 reported as pathogenic for Nephrotic syndrome, type 10

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001424.6(EMP2):c.28G>A (p.Ala10Thr) rs587777482 0.00007
NM_001424.6(EMP2):c.184C>T (p.Gln62Ter) rs587777481
NM_001424.6(EMP2):c.21C>G (p.Phe7Leu) rs730882194

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