ClinVar Miner

List of variants studied for nephrotic syndrome, type 10

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001424.6(EMP2):c.170-14C>T rs1504883 0.42909
NM_001424.6(EMP2):c.28G>A (p.Ala10Thr) rs587777482 0.00007
NM_001424.6(EMP2):c.497G>A (p.Arg166His) rs138530114 0.00007
NM_001424.6(EMP2):c.184C>T (p.Gln62Ter) rs587777481
NM_001424.6(EMP2):c.188C>T (p.Ala63Val)
NM_001424.6(EMP2):c.21C>G (p.Phe7Leu) rs730882194
NM_001424.6(EMP2):c.427T>C (p.Tyr143His)
NM_001424.6(EMP2):c.78+1G>C
NM_001424.6(EMP2):c.87_89del (p.Trp29_Val30delinsTer)

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