List of variants reported as pathogenic for Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)	rs151340620
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro)	rs151340628
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter)	rs151340627
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)	rs797044813
NM_001127898.4(CLCN5):c.2295del (p.Met766fs)	rs1569540520
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter)	rs1933255436

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