ClinVar Miner

List of variants studied for Dent disease type 1

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ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.*5144C>T rs111560086 0.04593
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) rs34122840 0.04506
NM_001127898.4(CLCN5):c.*3409A>G rs59126550 0.01695
NM_001127898.4(CLCN5):c.416-6A>T rs6651602 0.01679
NM_001127898.4(CLCN5):c.*4192C>T rs148902882 0.01144
NM_001127898.4(CLCN5):c.*4692C>T rs143625654 0.00773
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) rs34800648 0.00771
NM_001127898.4(CLCN5):c.*3495A>G rs183523710 0.00296
NM_001127898.4(CLCN5):c.*6955C>G rs186369163 0.00273
NM_001127898.4(CLCN5):c.*6217G>A rs781967731 0.00151
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120 0.00136
NM_001127898.4(CLCN5):c.*2980A>G rs56147923 0.00116
NM_001127898.4(CLCN5):c.*4740C>G rs781970249 0.00102
NM_001127898.4(CLCN5):c.*6240G>C rs782177733 0.00073
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg) rs55676763 0.00051
NM_001127898.4(CLCN5):c.*6163T>C rs41312128 0.00050
NM_001127898.4(CLCN5):c.*1292C>T rs781855238 0.00045
NM_001127898.4(CLCN5):c.*4034A>T rs782274908 0.00042
NM_001127898.4(CLCN5):c.*4297A>C rs868964422 0.00028
NM_001127898.4(CLCN5):c.*5140A>G rs182121138 0.00027
NM_001127898.4(CLCN5):c.164-2249C>T rs781792158 0.00023
NM_001127898.4(CLCN5):c.*6538G>A rs781863818 0.00016
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.*3091G>A rs782521596 0.00013
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) rs781790886 0.00013
NM_001127898.4(CLCN5):c.*2479G>A rs782387568 0.00012
NM_001127898.4(CLCN5):c.164-2130C>T rs782456542 0.00012
NM_001127898.4(CLCN5):c.*2324G>A rs782677531 0.00011
NM_001127898.4(CLCN5):c.*4606A>C rs1024086673 0.00009
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001127898.4(CLCN5):c.*1874G>A rs1053041096 0.00008
NM_001127898.4(CLCN5):c.*5088G>T rs1024034661 0.00008
NM_001127898.4(CLCN5):c.*2384A>C rs1349157919 0.00007
NM_001127898.4(CLCN5):c.*6638G>A rs963123113 0.00007
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00007
NM_001127898.4(CLCN5):c.*5377G>A rs1397080511 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001127898.4(CLCN5):c.*1339A>G rs782530331 0.00005
NM_001127898.4(CLCN5):c.*1887G>C rs782403661 0.00005
NM_001127898.4(CLCN5):c.*6482C>T rs997377113 0.00005
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) rs782817681 0.00005
NM_001127898.4(CLCN5):c.*2317G>A rs969354356 0.00004
NM_001127898.4(CLCN5):c.*2460G>A rs111452206 0.00004
NM_001127898.4(CLCN5):c.*559A>G rs375542213 0.00004
NM_001127898.4(CLCN5):c.*6372T>C rs573740499 0.00004
NM_001127898.4(CLCN5):c.164-2276G>A rs905143179 0.00004
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) rs782060809 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=) rs782320623 0.00004
NM_001127898.4(CLCN5):c.*1625C>T rs1354057843 0.00003
NM_001127898.4(CLCN5):c.*3090C>T rs1057515940 0.00003
NM_001127898.4(CLCN5):c.*3912C>T rs1235435896 0.00003
NM_001127898.4(CLCN5):c.*4911G>A rs1189982201 0.00003
NM_001127898.4(CLCN5):c.*5895T>A rs1057515947 0.00003
NM_001127898.4(CLCN5):c.*6608C>T rs1016988265 0.00003
NM_001127898.4(CLCN5):c.164-2118G>T rs957427726 0.00003
NM_001127898.4(CLCN5):c.*1447T>G rs543285083 0.00002
NM_001127898.4(CLCN5):c.*1735T>C rs782712129 0.00002
NM_001127898.4(CLCN5):c.*2270A>G rs1057515936 0.00002
NM_001127898.4(CLCN5):c.*2849C>T rs969468804 0.00002
NM_001127898.4(CLCN5):c.*477G>A rs1035298488 0.00002
NM_001127898.4(CLCN5):c.*866A>G rs1323934459 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=) rs140312372 0.00002
NM_001127898.4(CLCN5):c.*1868T>C rs1934188059 0.00001
NM_001127898.4(CLCN5):c.*1938G>A rs1234577943 0.00001
NM_001127898.4(CLCN5):c.*3627C>T rs1057515941 0.00001
NM_001127898.4(CLCN5):c.*3937C>A rs1057515942 0.00001
NM_001127898.4(CLCN5):c.*39C>T rs781818466 0.00001
NM_001127898.4(CLCN5):c.*5340A>C rs1234568435 0.00001
NM_001127898.4(CLCN5):c.*5844C>T rs957036730 0.00001
NM_001127898.4(CLCN5):c.1488T>C (p.Ser496=) rs781920581 0.00001
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) rs1318459336 0.00001
NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=) rs781948493 0.00001
NC_000023.11:g.(?_49922616)_(50099235_?)del
NG_007159.3:g.(?_162979)_(164232_?)del
NG_007159.3:g.173054_173069dupinsAluYa5
NM_001127898.4(CLCN5):c.*2557A>G rs1057515938
NM_001127898.4(CLCN5):c.*3071A>G rs1057515939
NM_001127898.4(CLCN5):c.*3388T>G rs1934238784
NM_001127898.4(CLCN5):c.*379G>C rs782172153
NM_001127898.4(CLCN5):c.*3957C>G rs1934256135
NM_001127898.4(CLCN5):c.*504G>C rs1057515931
NM_001127898.4(CLCN5):c.*5240T>C rs1934296250
NM_001127898.4(CLCN5):c.*5815T>C rs1057515945
NM_001127898.4(CLCN5):c.*5970C>T rs1934320534
NM_001127898.4(CLCN5):c.*6694C>T rs1569540841
NM_001127898.4(CLCN5):c.*6841T>C rs1934346410
NM_001127898.4(CLCN5):c.*969A>G rs1057515932
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter) rs1933873534
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys) rs273585644
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe) rs273585648
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter) rs797044809
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) rs151340620
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val) rs1060499698
NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg)
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) rs1933891368
NM_001127898.4(CLCN5):c.1191A>G (p.Ile397Met)
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys) rs273585646
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1261C>T (p.Gln421Ter)
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs) rs1933898062
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs) rs2147596542
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) rs1569540369
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter) rs1933903437
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)
NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met) rs368039993
NM_001127898.4(CLCN5):c.1495T>C (p.Trp499Arg)
NM_001127898.4(CLCN5):c.1517_1518dup (p.Leu507fs)
NM_001127898.4(CLCN5):c.1557+1G>T rs1569540382
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) rs1933979876
NM_001127898.4(CLCN5):c.1580del (p.Pro527fs)
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) rs797044811
NM_001127898.4(CLCN5):c.1628T>C (p.Met543Thr)
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) rs1557194353
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) rs151340625
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs) rs1933984291
NM_001127898.4(CLCN5):c.1745G>A (p.Gly582Asp)
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs) rs1934037265
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs) rs1934037561
NM_001127898.4(CLCN5):c.1789G>T (p.Glu597Ter)
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn) rs1934039336
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys) rs1934041295
NM_001127898.4(CLCN5):c.1869dup (p.Arg624fs)
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs) rs2147605760
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp)
NM_001127898.4(CLCN5):c.1A>G (p.Met1Val)
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter) rs2147606263
NM_001127898.4(CLCN5):c.2061C>A (p.Tyr687Ter)
NM_001127898.4(CLCN5):c.2108G>A (p.Gly703Asp)
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2129T>G (p.Leu710Arg)
NM_001127898.4(CLCN5):c.2140A>G (p.Ile714Val)
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs) rs1934069016
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) rs782267039
NM_001127898.4(CLCN5):c.2360+1G>A
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) rs797044814
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs) rs797044815
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) rs1049618423
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) rs797044808
NM_001127898.4(CLCN5):c.315G>A (p.Glu105=)
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs) rs1933254834
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) rs1569540047
NM_001127898.4(CLCN5):c.379G>C (p.Gly127Arg) rs782720805
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys) rs1933257247
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs) rs1933380245
NM_001127898.4(CLCN5):c.497T>C (p.Phe166Ser)
NM_001127898.4(CLCN5):c.505G>T (p.Glu169Ter)
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter) rs1557192084
NM_001127898.4(CLCN5):c.667del (p.Ala224fs)
NM_001127898.4(CLCN5):c.746G>T (p.Gly249Val)
NM_001127898.4(CLCN5):c.776G>A (p.Trp259Ter)
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg) rs151340622
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001127898.4(CLCN5):c.850_851delinsAA (p.Leu284Lys)
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro) rs273585645
NM_001127898.4(CLCN5):c.902A>T (p.Lys301Ile)
NM_001127898.4(CLCN5):c.906del (p.Lys301_Tyr302insTer)
NM_001127898.4(CLCN5):c.933+2T>C rs2147582103
NM_001127898.4(CLCN5):c.933+3A>C rs1602123559
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) rs151340626
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.950C>A (p.Ala317Glu)
NM_001127898.4(CLCN5):c.961G>A (p.Val321Ile) rs1557193807
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg) rs2147594126
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630
Single allele

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