List of variants in gene OCRL reported as uncertain significance for Dent disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)	rs760751280	0.00014
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)	rs148646884	0.00006
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)	rs371099243	0.00003
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	rs748186190	0.00002
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)	rs1388273402	0.00002
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)	rs756670728	0.00001
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)	rs1278754966	0.00001
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)	rs761645724	0.00001
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)	rs768629676	0.00001
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)	rs762676076	0.00001
NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)
NM_000276.4(OCRL):c.1466+4A>G	rs1026438062
NM_000276.4(OCRL):c.2651_2653del (p.Arg884del)	rs1936569806
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)	rs916507337
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)	rs1936141520

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