List of variants reported as likely pathogenic for Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.1004G>T (p.Ser335Ile)	rs782157715
NM_001127898.4(CLCN5):c.1052C>A (p.Ser351Ter)
NM_001127898.4(CLCN5):c.1137dup (p.Phe380fs)
NM_001127898.4(CLCN5):c.1275T>G (p.Tyr425Ter)
NM_001127898.4(CLCN5):c.1485C>G (p.Tyr495Ter)
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)	rs1933979876
NM_001127898.4(CLCN5):c.1595G>A (p.Gly532Asp)
NM_001127898.4(CLCN5):c.1601_1602dup (p.Ala535Ter)
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)	rs2519440480
NM_001127898.4(CLCN5):c.1658G>A (p.Trp553Ter)
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)	rs1557194353
NM_001127898.4(CLCN5):c.1744+1G>C
NM_001127898.4(CLCN5):c.1748G>A (p.Gly583Glu)	rs2147605140
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)	rs797044812
NM_001127898.4(CLCN5):c.1790A>C (p.Glu597Ala)
NM_001127898.4(CLCN5):c.2291_2293delinsAA (p.Thr764fs)
NM_001127898.4(CLCN5):c.277_282delinsTCTC (p.Val93fs)
NM_001127898.4(CLCN5):c.348del (p.Ala116_Leu117insTer)
NM_001127898.4(CLCN5):c.416-1G>A
NM_001127898.4(CLCN5):c.567G>A (p.Trp189Ter)
NM_001127898.4(CLCN5):c.772A>T (p.Lys258Ter)
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)	rs1933713383
NM_001127898.4(CLCN5):c.933+1G>A	rs2519422486

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