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

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: 93

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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.1467T>C (p.Ser489=)	rs142398161	0.00004
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.1656C>T (p.Arg552=)	rs761645724	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
NG_008638.1:g.(5550_9683)_(13328_22050)del
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu)	rs1057521742
NM_000276.4(OCRL):c.1056+1G>A
NM_000276.4(OCRL):c.1057-7C>A
NM_000276.4(OCRL):c.1057-7C>G
NM_000276.4(OCRL):c.1060A>C (p.Asn354His)	rs137853833
NM_000276.4(OCRL):c.108del (p.Asn36fs)
NM_000276.4(OCRL):c.1097A>G (p.Asn366Ser)
NM_000276.4(OCRL):c.111del (p.Gln38fs)
NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)
NM_000276.4(OCRL):c.1220C>T (p.Pro407Leu)
NM_000276.4(OCRL):c.1244+1G>A	rs1936163310
NM_000276.4(OCRL):c.1245-1083G>A	rs1936192276
NM_000276.4(OCRL):c.1401T>G (p.Asn467Lys)
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)	rs137853262
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter)	rs2124410812
NM_000276.4(OCRL):c.1466+4A>G	rs1026438062
NM_000276.4(OCRL):c.1467-1G>A
NM_000276.4(OCRL):c.1467-4dup
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)	rs137853846
NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr)	rs2124412922
NM_000276.4(OCRL):c.1603-14A>T
NM_000276.4(OCRL):c.167_168del (p.Ile56fs)	rs2124388022
NM_000276.4(OCRL):c.1713+2T>C	rs2124417909
NM_000276.4(OCRL):c.1713+3G>A
NM_000276.4(OCRL):c.172A>G (p.Ile58Val)
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)
NM_000276.4(OCRL):c.182A>G (p.His61Arg)
NM_000276.4(OCRL):c.187_199+449del	rs1556338810
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
NM_000276.4(OCRL):c.200-11dup	rs765652296
NM_000276.4(OCRL):c.206A>T (p.Glu69Val)
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu)	rs1936370877
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)	rs2124419087
NM_000276.4(OCRL):c.2093C>G (p.Pro698Arg)
NM_000276.4(OCRL):c.2102A>G (p.Lys701Arg)
NM_000276.4(OCRL):c.2136_2139delinsCT (p.Glu712fs)
NM_000276.4(OCRL):c.2139+1G>A
NM_000276.4(OCRL):c.2140-5A>G
NM_000276.4(OCRL):c.217_218del (p.Leu73fs)	rs2124392540
NM_000276.4(OCRL):c.2209G>A (p.Glu737Lys)
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)
NM_000276.4(OCRL):c.238+3_238+6del
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)	rs1569463775
NM_000276.4(OCRL):c.2455C>T (p.Arg819Trp)
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)	rs1602819835
NM_000276.4(OCRL):c.2510G>A (p.Arg837His)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)	rs387906484
NM_000276.4(OCRL):c.2575A>G (p.Met859Val)
NM_000276.4(OCRL):c.2641C>G (p.Pro881Ala)
NM_000276.4(OCRL):c.2651_2653del (p.Arg884del)	rs1936569806
NM_000276.4(OCRL):c.300del (p.Asp100fs)
NM_000276.4(OCRL):c.440-15G>A
NM_000276.4(OCRL):c.523C>G (p.Arg175Gly)
NM_000276.4(OCRL):c.533del (p.Pro178fs)	rs1602782082
NM_000276.4(OCRL):c.561-1G>A
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)	rs916507337
NM_000276.4(OCRL):c.619C>T (p.Arg207Trp)
NM_000276.4(OCRL):c.64G>A (p.Gly22Ser)
NM_000276.4(OCRL):c.656G>A (p.Arg219Gln)
NM_000276.4(OCRL):c.659A>T (p.Glu220Val)
NM_000276.4(OCRL):c.778C>T (p.Pro260Ser)
NM_000276.4(OCRL):c.780_781insACT (p.Pro260_Trp261insThr)	rs1569459167
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)	rs137853829
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)	rs1936141520
NM_000276.4(OCRL):c.940-11G>A	rs776743373
NM_000276.4(OCRL):c.940-15C>A
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)	rs137853263
NM_000276.4(OCRL):c.953G>A (p.Arg318His)	rs2124405779
Single allele

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