ClinVar Miner

List of variants studied for Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 74
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HGVS dbSNP gnomAD frequency
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.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
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.2007G>A (p.Leu669=) rs151120697 0.00018
NM_001128178.3(NPHP1):c.599G>A (p.Gly200Asp) rs373951297 0.00012
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.61A>G (p.Lys21Glu) rs1033790263 0.00009
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
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.1589G>A (p.Arg530Gln) rs534052463 0.00005
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 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.1649T>C (p.Ile550Thr) rs143231282 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128178.3(NPHP1):c.1960G>A (p.Gly654Arg) rs781531545 0.00004
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 0.00004
NM_001128178.3(NPHP1):c.772-11A>T rs189649819 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.1722G>A (p.Ser574=) rs778531895 0.00003
NM_001128178.3(NPHP1):c.50A>G (p.Asn17Ser) rs200480007 0.00003
NM_001128178.3(NPHP1):c.1434C>T (p.His478=) rs148809478 0.00002
NM_001128178.3(NPHP1):c.1541A>G (p.Glu514Gly) rs755592231 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.242G>A (p.Arg81Lys) rs762244069 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.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001128178.3(NPHP1):c.1009A>C (p.Met337Leu) rs780706360 0.00001
NM_001128178.3(NPHP1):c.1016C>G (p.Pro339Arg) rs746482479 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.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1523T>G (p.Val508Gly) rs951115963 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 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.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 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.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.771+78G>A rs762350912 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1270-12C>T rs772635725
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.1530-4del rs757295724
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.859+8G>C rs765856771

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