List of variants reported as pathogenic for inherited renal tubular disease by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)	rs886039519
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter)	rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter)	rs1601115231
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	rs797045046
NM_000516.7(GNAS):c.530+1G>T	rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000901.5(NR3C2):c.2194C>T (p.Arg732Ter)
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter)	rs1933255436

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