ClinVar Miner

List of variants in gene NPHP1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.1269+274G>T rs3789732 0.38096
NM_001128178.3(NPHP1):c.1159-304G>A rs1848682 0.38073
NM_001128178.3(NPHP1):c.1159-61C>T rs1509417 0.38064
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001128178.3(NPHP1):c.1642+148G>A rs11240790 0.30290
NM_001128178.3(NPHP1):c.1529+224C>T rs2864665 0.30268
NM_001128178.3(NPHP1):c.955-339A>G rs17842678 0.29046
NM_001128178.3(NPHP1):c.329+133T>C rs2271245 0.29031
NM_001128178.3(NPHP1):c.1159-140A>T rs1509416 0.28985
NM_001128178.3(NPHP1):c.860-47G>A rs2271244 0.28919
NM_001128178.3(NPHP1):c.625-329C>T rs17842675 0.28208
NM_001128178.3(NPHP1):c.204+100G>A rs11898910 0.14809
NC_000002.12:g.110205149G>A rs3789726 0.08105
NM_001128178.3(NPHP1):c.1353-47T>C rs1509419 0.07914
NM_001128178.3(NPHP1):c.771+423C>T rs78206992 0.07906
NM_001128178.3(NPHP1):c.1084-208C>A rs74882894 0.06754
NM_001128178.3(NPHP1):c.1083+77T>G rs10174448 0.06753
NM_001128178.3(NPHP1):c.955-237C>G rs17842679 0.04646
NM_001128178.3(NPHP1):c.1529+38T>A rs17842686 0.04645
NM_001128178.3(NPHP1):c.860-34T>A rs979376 0.04643
NM_001128178.3(NPHP1):c.523-328T>C rs72826897 0.03550
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001128178.3(NPHP1):c.143+73G>T rs35810959 0.02725
NM_001128178.3(NPHP1):c.1269+240A>C rs73954620 0.02685
NM_001128178.3(NPHP1):c.329+76C>T rs111454868 0.01491
NM_001128178.3(NPHP1):c.1762-96C>T rs79332992 0.01468
NM_001128178.3(NPHP1):c.772-118C>T rs78967435 0.01466
NM_001128178.3(NPHP1):c.859+34A>C rs79943015 0.01461
NM_001128178.3(NPHP1):c.1269+335T>C rs17842684 0.01297
NM_001128178.3(NPHP1):c.860-210A>G rs189349107 0.01194
NM_001128178.3(NPHP1):c.1269+170G>A rs17842682 0.01141
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001128178.3(NPHP1):c.1352+130T>C rs17842685 0.01138
NM_001128178.3(NPHP1):c.860-285A>C rs17842677 0.01138
NM_001128178.3(NPHP1):c.329+88T>G rs17842672 0.01136
NM_001128178.3(NPHP1):c.205-145A>G rs112623366 0.01133
NM_001128178.3(NPHP1):c.1529+19C>T rs112090979 0.01096
NM_001128178.3(NPHP1):c.329+139G>T rs113684207 0.01071
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_001128178.3(NPHP1):c.1353-58C>T rs1509418 0.00585
NM_001128178.3(NPHP1):c.771+313C>T rs146460084 0.00581
NM_001128178.3(NPHP1):c.329+291T>C rs17842673 0.00579
NM_001128178.3(NPHP1):c.1642+197C>T rs76478851 0.00412
NM_001128178.3(NPHP1):c.1159-347C>T rs150098708 0.00389
NM_001128178.3(NPHP1):c.523-323G>A rs114292676 0.00381
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001128178.3(NPHP1):c.1643-46T>C rs116329819 0.00310
NM_001128178.3(NPHP1):c.624+48G>A rs116733998 0.00310
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 0.00121
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00059
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001128178.3(NPHP1):c.43C>A (p.Arg15Ser) rs373915635 0.00029
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001128178.3(NPHP1):c.336G>A (p.Gly112=) rs144217506 0.00021
NM_001128178.3(NPHP1):c.619C>G (p.Leu207Val) rs144088139 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.771+33G>A rs751388694 0.00017
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001128178.3(NPHP1):c.*1C>T rs376898832 0.00010
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00006
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val) rs750291966 0.00005
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=) rs567306113 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00004
NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr) rs780578104 0.00004
NM_001128178.3(NPHP1):c.903G>A (p.Met301Ile) rs375386218 0.00004
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=) rs200521790 0.00003
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001128178.3(NPHP1):c.771+38G>T rs764086072 0.00003
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly) rs368025611 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 0.00002
NM_001128178.3(NPHP1):c.2018G>A (p.Arg673Lys) rs753549193 0.00002
NM_001128178.3(NPHP1):c.385_387del (p.Ser129del) rs753643526 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.690G>A (p.Ala230=) rs775869913 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val) rs141786398 0.00001
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val) rs778619698 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1857G>A (p.Trp619Ter) rs1473345628 0.00001
NM_001128178.3(NPHP1):c.205-3T>C rs974400100 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.474C>T (p.Ile158=) rs1253817401 0.00001
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys) rs772166657 0.00001
NM_001128178.3(NPHP1):c.555A>G (p.Lys185=) rs749606788 0.00001
NM_001128178.3(NPHP1):c.645A>C (p.Glu215Asp) rs760469889 0.00001
NM_001128178.3(NPHP1):c.6G>C (p.Leu2=) rs1217380152 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) rs1212929849 0.00001
GRCh37/hg19 2q13(chr2:110881368-110962545)x0
GRCh37/hg19 2q13(chr2:110881368-110962545)x1
NM_001128178.3(NPHP1):c.*206C>G
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1083+3657G>A
NM_001128178.3(NPHP1):c.1083+9A>G rs1574117534
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1301G>T (p.Gly434Val)
NM_001128178.3(NPHP1):c.1315A>G (p.Lys439Glu)
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu) rs2104492226
NM_001128178.3(NPHP1):c.1353-116C>T rs3752863
NM_001128178.3(NPHP1):c.1353-95_1353-90del rs138809408
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1396G>C (p.Gly466Arg)
NM_001128178.3(NPHP1):c.1429+7C>T rs1553484063
NM_001128178.3(NPHP1):c.1429+9C>G rs1163657756
NM_001128178.3(NPHP1):c.143+1G>A rs745806504
NM_001128178.3(NPHP1):c.1430-8C>G rs750113370
NM_001128178.3(NPHP1):c.1513T>C (p.Ser505Pro)
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1530-10del rs779032904
NM_001128178.3(NPHP1):c.1530-9C>T rs1166587245
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.1587T>C (p.Tyr529=) rs398123286
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu) rs1559045921
NM_001128178.3(NPHP1):c.1592A>G (p.Gln531Arg)
NM_001128178.3(NPHP1):c.1613T>C (p.Leu538Pro) rs1559045906
NM_001128178.3(NPHP1):c.1643-302A>C rs2271242
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) rs746510153
NM_001128178.3(NPHP1):c.1716+76_1716+77insGTCATCTG rs3838315
NM_001128178.3(NPHP1):c.1716+7A>G rs1445032611
NM_001128178.3(NPHP1):c.1762-486C>G
NM_001128178.3(NPHP1):c.1762-6del
NM_001128178.3(NPHP1):c.1786A>G (p.Thr596Ala)
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His) rs566866150
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr) rs886043591
NM_001128178.3(NPHP1):c.1860AGA[2] (p.Glu623del) rs769266828
NM_001128178.3(NPHP1):c.1872T>A (p.Thr624=) rs1574045410
NM_001128178.3(NPHP1):c.1930G>C (p.Gly644Arg) rs760619900
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.210T>C (p.Asp70=) rs1553491062
NM_001128178.3(NPHP1):c.308T>G (p.Ile103Arg)
NM_001128178.3(NPHP1):c.374A>T (p.Asp125Val) rs2104578757
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.419A>G (p.Glu140Gly)
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys) rs1011754227
NM_001128178.3(NPHP1):c.468A>G (p.Glu156=)
NM_001128178.3(NPHP1):c.488T>A (p.Phe163Tyr)
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)
NM_001128178.3(NPHP1):c.624+35dup rs11453404
NM_001128178.3(NPHP1):c.625-82G>C rs116047229
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.684A>G (p.Val228=) rs138705625
NM_001128178.3(NPHP1):c.69+221_69+222del rs566213949
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.728+9G>A rs1280756117
NM_001128178.3(NPHP1):c.771+145C>T
NM_001128178.3(NPHP1):c.771+186dup rs376683260
NM_001128178.3(NPHP1):c.771+19G>A rs780802757
NM_001128178.3(NPHP1):c.771+201G>T rs199669720
NM_001128178.3(NPHP1):c.771+58C>A rs367600757
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.772-9T>C rs1553487378
NM_001128178.3(NPHP1):c.790G>A (p.Val264Met) rs1559074346
NM_001128178.3(NPHP1):c.843_845delinsGCT (p.Gln282Leu) rs1559074182
NM_001128178.3(NPHP1):c.86C>T (p.Ser29Phe)
NM_001128178.3(NPHP1):c.898C>T (p.Leu300Phe) rs772404584
NM_001128178.3(NPHP1):c.954+139T>C rs3817140
NM_001128178.3(NPHP1):c.954+224_954+227del rs368447278
NM_001128178.3(NPHP1):c.955-208dup rs58635772
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) rs794727018

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