List of variants reported as pathogenic for nephrolithiasis, X-linked recessive, with renal failure by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)	rs1933891368
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)	rs797044810
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)	rs797044813
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)	rs1049618423
NM_001127898.4(CLCN5):c.342del (p.Trp115fs)
NM_001127898.4(CLCN5):c.371dup (p.Ser126fs)
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)	rs151340626

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