List of variants reported as pathogenic for inherited renal tubular disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)	rs137852923	0.00003
NM_001126108.2(SLC12A3):c.1180+1G>T	rs749098014	0.00001
NM_000054.7(AVPR2):c.24del (p.Ala9fs)	rs1557100304
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs)	rs1057516207
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)	rs779588655
NM_001038.6(SCNN1A):c.1361-2A>G	rs1948331954
NM_001126108.2(SLC12A3):c.2576del (p.Cys859fs)	rs1555501632
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)	rs745949846
NM_006580.4(CLDN16):c.468del (p.Gly157fs)	rs1553809654
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)	rs1323529877
NM_014956.5(CEP164):c.4286+1G>T	rs2047400808
NM_015102.5(NPHP4):c.750dup (p.Ser251fs)	rs754862360
NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)	rs772429581
NM_153717.3(EVC):c.1554dup (p.Leu519fs)	rs1553876870

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