ClinVar Miner

List of variants studied for Renal-hepatic-pancreatic dysplasia 1

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ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696 0.01128
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_153240.5(NPHP3):c.*1188A>G rs7632096 0.00282
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_153240.5(NPHP3):c.*1020T>C rs186828918 0.00120
NM_153240.5(NPHP3):c.*852C>A rs192360684 0.00104
NM_153240.5(NPHP3):c.105G>A (p.Lys35=) rs377060857 0.00085
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_153240.5(NPHP3):c.*1176G>A rs183658380 0.00063
NM_153240.5(NPHP3):c.*926C>T rs570076170 0.00063
NM_153240.5(NPHP3):c.*141T>C rs538987591 0.00061
NM_153240.5(NPHP3):c.*519C>T rs3891704 0.00060
NM_153240.4(NPHP3):c.-70C>T rs886058006 0.00056
NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) rs146890274 0.00054
NM_153240.5(NPHP3):c.*437C>T rs539230132 0.00050
NM_153240.5(NPHP3):c.*1121A>G rs576904017 0.00046
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153240.5(NPHP3):c.*46A>G rs530016526 0.00012
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser) rs117872197 0.00011
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) rs765722959 0.00008
NM_153240.5(NPHP3):c.*231A>T rs753577987 0.00007
NM_153240.5(NPHP3):c.1533A>T (p.Gln511His) rs368126549 0.00007
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153240.5(NPHP3):c.*784C>T rs376015619 0.00006
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153240.5(NPHP3):c.332C>T (p.Ser111Phe) rs200233813 0.00006
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) rs771832737 0.00004
NM_153240.5(NPHP3):c.*1213T>C rs886057994 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_153240.5(NPHP3):c.2752A>G (p.Met918Val) rs140594430 0.00002
NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln) rs119456963 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 0.00002
NM_153240.5(NPHP3):c.*1098C>T rs886057995 0.00001
NM_153240.5(NPHP3):c.*139T>G rs886058001 0.00001
NM_153240.5(NPHP3):c.*351A>T rs992880401 0.00001
NM_153240.5(NPHP3):c.*692C>T rs886057997 0.00001
NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) rs1939564898 0.00001
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=) rs1281725083 0.00001
NM_153240.5(NPHP3):c.3563A>G (p.Lys1188Arg) rs772079066 0.00001
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter) rs780020801 0.00001
NM_153240.5(NPHP3):c.3697-7T>A rs777908405 0.00001
NM_153240.5(NPHP3):c.3875A>C (p.Glu1292Ala) rs766281273 0.00001
NM_153240.5(NPHP3):c.*1078T>G rs886057996
NM_153240.5(NPHP3):c.*1094A>G rs1939005375
NM_153240.5(NPHP3):c.*1184A>T rs1939002888
NM_153240.5(NPHP3):c.*121_*123del rs371974858
NM_153240.5(NPHP3):c.*178T>G rs1939035707
NM_153240.5(NPHP3):c.*626C>G rs1156702698
NM_153240.5(NPHP3):c.*650_*651del rs886058000
NM_153240.5(NPHP3):c.*652_*653del rs886057999
NM_153240.5(NPHP3):c.*652del rs369921629
NM_153240.5(NPHP3):c.*654dup rs886057998
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1524+11G>T rs1939687605
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1565C>T (p.Pro522Leu) rs576089202
NM_153240.5(NPHP3):c.1761G>A (p.Trp587Ter)
NM_153240.5(NPHP3):c.176C>T (p.Ser59Leu)
NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) rs373627362
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) rs139730838
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.2692A>G (p.Arg898Gly) rs1560003115
NM_153240.5(NPHP3):c.2783A>G (p.Gln928Arg) rs751790371
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3126-12dup rs398124547
NM_153240.5(NPHP3):c.3214C>T (p.Leu1072Phe) rs886058002
NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) rs141144099
NM_153240.5(NPHP3):c.3340C>T (p.Gln1114Ter) rs119456964
NM_153240.5(NPHP3):c.3466G>T (p.Glu1156Ter)
NM_153240.5(NPHP3):c.394-89AT[7] rs10590809
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.69del (p.Gly24fs)
NM_153240.5(NPHP3):c.913A>G (p.Ile305Val) rs886058004

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