ClinVar Miner

List of variants in gene NPHP1 studied for Senior-Loken syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03028
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01042
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00370
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
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.*250C>T rs150558683 0.00139
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.836C>T (p.Thr279Met) rs200201945 0.00060
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00055
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00042
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser) rs189982575 0.00028
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00025
NM_001128178.3(NPHP1):c.771+89A>G rs139787582 0.00023
NM_001128178.3(NPHP1):c.69+4T>C rs570913772 0.00021
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00020
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu) rs138181219 0.00018
NM_001128178.3(NPHP1):c.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00012
NM_000272.3(NPHP1):c.-54C>T rs777453061 0.00009
NM_000272.4(NPHP1):c.*460T>A rs960612307 0.00009
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=) rs146220435 0.00009
NM_001128178.3(NPHP1):c.493G>A (p.Ala165Thr) rs377676279 0.00009
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 0.00007
NM_001128178.3(NPHP1):c.61A>G (p.Lys21Glu) rs1033790263 0.00007
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.69+20A>G rs199941495 0.00006
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00006
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00005
NM_001128178.3(NPHP1):c.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 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.772-11A>T rs189649819 0.00005
NM_001128178.3(NPHP1):c.811A>G (p.Ile271Val) rs750291966 0.00005
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 0.00004
NM_001128178.3(NPHP1):c.1353-9C>A rs376436841 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00004
NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) rs375317119 0.00004
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00003
NM_001128178.3(NPHP1):c.104A>G (p.Glu35Gly) rs368025611 0.00003
NM_001128178.3(NPHP1):c.1649T>C (p.Ile550Thr) rs143231282 0.00003
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.1943C>G (p.Ala648Gly) rs779089046 0.00003
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00003
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00003
NM_001128178.3(NPHP1):c.308T>C (p.Ile103Thr) rs780578104 0.00003
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp) rs765568261 0.00003
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00003
NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) rs794726975 0.00003
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.1617A>G (p.Lys539=) rs1266229950 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.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.771+26A>G rs1437104283 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001128178.3(NPHP1):c.*199A>G rs1679131109 0.00001
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
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.1279G>C (p.Glu427Gln) rs886054753 0.00001
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser) rs774251781 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1520A>G (p.Asn507Ser) rs35638834 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val) rs778619698 0.00001
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.175A>C (p.Asn59His) rs1215401547 0.00001
NM_001128178.3(NPHP1):c.1765G>A (p.Asp589Asn) rs896252440 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.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe) rs748152745 0.00001
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00001
NM_001128178.3(NPHP1):c.242G>A (p.Arg81Lys) rs762244069 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.385_386del (p.Ser129fs) rs757139057 0.00001
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=) rs548684868 0.00001
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val) rs1682469936 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) rs1212929849 0.00001
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001128178.3(NPHP1):c.1043T>C (p.Leu348Pro)
NM_001128178.3(NPHP1):c.1044_1053del (p.Ser349fs)
NM_001128178.3(NPHP1):c.1057C>T (p.Arg353Cys)
NM_001128178.3(NPHP1):c.1078A>G (p.Asn360Asp)
NM_001128178.3(NPHP1):c.1165C>G (p.Arg389Gly) rs375907280
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1187A>G (p.Asp396Gly)
NM_001128178.3(NPHP1):c.1269+15A>G rs2467258975
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter) rs2467599617
NM_001128178.3(NPHP1):c.1306G>A (p.Val436Met)
NM_001128178.3(NPHP1):c.1352+1G>A
NM_001128178.3(NPHP1):c.1396G>C (p.Gly466Arg)
NM_001128178.3(NPHP1):c.1415_1427del (p.Pro471_Ser472insTer)
NM_001128178.3(NPHP1):c.1429+12A>G
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1525C>G (p.Leu509Val)
NM_001128178.3(NPHP1):c.1530-1G>A
NM_001128178.3(NPHP1):c.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr) rs1318488822
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu) rs1559045921
NM_001128178.3(NPHP1):c.1642+3A>T
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) rs746510153
NM_001128178.3(NPHP1):c.1676C>T (p.Pro559Leu)
NM_001128178.3(NPHP1):c.1704G>A (p.Met568Ile)
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1735G>T (p.Glu579Ter)
NM_001128178.3(NPHP1):c.1761+8A>G
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.182del (p.Asn61fs) rs1683749371
NM_001128178.3(NPHP1):c.1838G>T (p.Arg613Leu)
NM_001128178.3(NPHP1):c.1846C>G (p.Pro616Ala)
NM_001128178.3(NPHP1):c.1853G>A (p.Arg618Lys)
NM_001128178.3(NPHP1):c.1860AGA[2] (p.Glu623del) rs769266828
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1891G>A (p.Val631Ile)
NM_001128178.3(NPHP1):c.1893dup (p.Ile632fs)
NM_001128178.3(NPHP1):c.1909A>G (p.Lys637Glu)
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly) rs1683747045
NM_001128178.3(NPHP1):c.1A>T (p.Met1Leu)
NM_001128178.3(NPHP1):c.2006T>C (p.Leu669Ser)
NM_001128178.3(NPHP1):c.223G>A (p.Val75Ile)
NM_001128178.3(NPHP1):c.307A>C (p.Ile103Leu) rs778905635
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=) rs977347524
NM_001128178.3(NPHP1):c.31C>T (p.Gln11Ter)
NM_001128178.3(NPHP1):c.330-10C>G
NM_001128178.3(NPHP1):c.33G>C (p.Gln11His)
NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.367_381del (p.Ser123_Glu127del)
NM_001128178.3(NPHP1):c.410A>G (p.Glu137Gly)
NM_001128178.3(NPHP1):c.41G>A (p.Arg14Gln)
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.46C>T (p.Arg16Cys)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.501A>G (p.Gln167=)
NM_001128178.3(NPHP1):c.522+1G>A rs2467403268
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.522G>C (p.Lys174Asn)
NM_001128178.3(NPHP1):c.523-1G>T
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly) rs751001238
NM_001128178.3(NPHP1):c.589G>A (p.Gly197Arg)
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.609dup (p.Arg204fs)
NM_001128178.3(NPHP1):c.617A>T (p.Tyr206Phe)
NM_001128178.3(NPHP1):c.622G>C (p.Glu208Gln)
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.640G>A (p.Glu214Lys)
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.69+1del rs1435671751
NM_001128178.3(NPHP1):c.70-10G>T
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.735del (p.His247fs) rs2467370270
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+151T>G
NM_001128178.3(NPHP1):c.771+170T>G
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.771+37_771+38dup
NM_001128178.3(NPHP1):c.771+56T>C
NM_001128178.3(NPHP1):c.771+58C>T rs367600757
NM_001128178.3(NPHP1):c.771+5G>C
NM_001128178.3(NPHP1):c.771+86C>T
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.772-5T>G
NM_001128178.3(NPHP1):c.808G>A (p.Ala270Thr)
NM_001128178.3(NPHP1):c.811A>T (p.Ile271Phe)
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001128178.3(NPHP1):c.821G>A (p.Gly274Glu)
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs) rs1388373598
NM_001128178.3(NPHP1):c.859+1G>A
NM_001128178.3(NPHP1):c.859+8G>C rs765856771
NM_001128178.3(NPHP1):c.878del (p.Asn293fs)
NM_001128178.3(NPHP1):c.912A>T (p.Gln304His)
NM_001128178.3(NPHP1):c.93C>A (p.Ser31Arg)
NM_001128178.3(NPHP1):c.977T>G (p.Ile326Ser)
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) rs794727018

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