ClinVar Miner

List of variants studied for Dent disease type 2

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 54
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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.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
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val) rs773387490 0.00001
NG_008638.1:g.(5550_9683)_(13328_22050)del
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) rs1057521742
NM_000276.4(OCRL):c.1056+1G>A
NM_000276.4(OCRL):c.1060A>C (p.Asn354His) rs137853833
NM_000276.4(OCRL):c.108del (p.Asn36fs)
NM_000276.4(OCRL):c.111del (p.Gln38fs)
NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.1245-1083G>A rs1936192276
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.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr) rs2124412922
NM_000276.4(OCRL):c.167_168del (p.Ile56fs) rs2124388022
NM_000276.4(OCRL):c.1713+2T>C rs2124417909
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000276.4(OCRL):c.200-11dup rs765652296
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu) rs1936370877
NM_000276.4(OCRL):c.217_218del (p.Leu73fs) rs2124392540
NM_000276.4(OCRL):c.2209G>A (p.Glu737Lys)
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2651_2653del (p.Arg884del) rs1936569806
NM_000276.4(OCRL):c.533del (p.Pro178fs) rs1602782082
NM_000276.4(OCRL):c.561G>A (p.Met187Ile) rs916507337
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu) rs1936141520
NM_000276.4(OCRL):c.940-11G>A rs776743373
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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