List of variants in gene combination CLCN5, LOC126863258 reported as uncertain significance for nephrolithiasis, X-linked recessive, with renal failure

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile)	rs201962580	0.00007
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)	rs781924436	0.00005
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)	rs147378499	0.00004
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)	rs782088515	0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)	rs946613180	0.00002
NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr)
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp)
NM_001127898.4(CLCN5):c.2023G>A (p.Val675Met)
NM_001127898.4(CLCN5):c.2090A>G (p.Glu697Gly)
NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala)	rs1934065991
NM_001127898.4(CLCN5):c.2249G>A (p.Arg750Gln)
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser)	rs782267039
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)	rs151340624

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