ClinVar Miner

List of variants in gene NPHP1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 91
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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 0.03266
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
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.1269+9G>A rs13414551 0.00089
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.619C>G (p.Leu207Val) rs144088139 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.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.771+33G>A rs751388694 0.00017
NM_001128178.3(NPHP1):c.1913A>G (p.Gln638Arg) rs186950965 0.00014
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.805G>A (p.Gly269Arg) rs768608137 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.202A>C (p.Lys68Gln) rs748557384 0.00006
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 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.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.205-3T>C rs974400100 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.1541A>G (p.Glu514Gly) rs755592231 0.00002
NM_001128178.3(NPHP1):c.1643-3C>T rs202167187 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.1016C>G (p.Pro339Arg) rs746482479 0.00001
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1558A>G (p.Met520Val) rs141786398 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 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.555A>G (p.Lys185=) rs749606788 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.859+5T>C rs374379957 0.00001
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) rs1212929849 0.00001
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs) rs398123285
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys) rs375907280
NM_001128178.3(NPHP1):c.1429+7C>T rs1553484063
NM_001128178.3(NPHP1):c.1429+9C>G rs1163657756
NM_001128178.3(NPHP1):c.1430-8C>G rs750113370
NM_001128178.3(NPHP1):c.1530-10del rs779032904
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.1613T>C (p.Leu538Pro) rs1559045906
NM_001128178.3(NPHP1):c.1716+7A>G rs1445032611
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.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.210T>C (p.Asp70=) rs1553491062
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.439G>A (p.Glu147Lys) rs1011754227
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
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+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.898C>T (p.Leu300Phe) rs772404584
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) rs794727018

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