List of variants reported as pathogenic for inherited renal tubular disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	rs137853108	0.00026
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs)	rs775637637	0.00001
NM_153704.6(TMEM67):c.2908-1G>T	rs1423869993	0.00001
NM_000516.7(GNAS):c.296del (p.Leu99fs)	rs2090829910
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	rs587776829
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC	rs1862217660
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter)	rs2035218747
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)	rs780905861

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