ClinVar Miner

List of variants studied for Dent disease type 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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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.11C>T (p.Pro4Leu) rs770815981 0.00008
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.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.101A>G (p.Gln34Arg)
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
NM_000276.4(OCRL):c.1057-7C>A
NM_000276.4(OCRL):c.1057-7C>G
NM_000276.4(OCRL):c.1097A>G (p.Asn366Ser)
NM_000276.4(OCRL):c.1220C>T (p.Pro407Leu)
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.1401T>G (p.Asn467Lys)
NM_000276.4(OCRL):c.1603-14A>T
NM_000276.4(OCRL):c.1713+3G>A
NM_000276.4(OCRL):c.172A>G (p.Ile58Val)
NM_000276.4(OCRL):c.182A>G (p.His61Arg)
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
NM_000276.4(OCRL):c.19G>T (p.Val7Phe) rs1935772672
NM_000276.4(OCRL):c.200-11dup rs765652296
NM_000276.4(OCRL):c.206A>T (p.Glu69Val)
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.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.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.440-15G>A
NM_000276.4(OCRL):c.523C>G (p.Arg175Gly)
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.940-15C>A
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779

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