List of variants in gene OCRL studied for Dent disease type 2; Lowe syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000276.4(OCRL):c.439+3A>G	rs61752971	0.00248
NM_000276.4(OCRL):c.912T>G (p.Gly304=)	rs190659938	0.00022
NM_000276.4(OCRL):c.105G>A (p.Arg35=)	rs142321728	0.00020
NM_000276.4(OCRL):c.152A>G (p.His51Arg)	rs764804719	0.00020
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)	rs377180274	0.00014
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)	rs760751280	0.00014
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)	rs375634816	0.00013
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)	rs148646884	0.00006
NM_000276.4(OCRL):c.284G>A (p.Arg95His)	rs770375201	0.00006
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)	rs376280495	0.00005
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)	rs773022942	0.00004
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.1889T>C (p.Val630Ala)	rs768629676	0.00001
NM_000276.4(OCRL):c.2582-9G>A	rs2071705	0.00001
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)	rs762676076	0.00001
NM_000276.4(OCRL):c.1244+1G>A	rs1936163310
NM_000276.4(OCRL):c.200-11dup	rs765652296
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)	rs387906484
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)	rs916507337
NM_000276.4(OCRL):c.940-11G>A	rs776743373
NM_000276.4(OCRL):c.953G>A (p.Arg318His)	rs2124405779

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