ClinVar Miner

List of variants in gene NPHP1 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.*194T>C rs189472793 0.00318
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.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.619C>G (p.Leu207Val) rs144088139 0.00029
NM_001128178.3(NPHP1):c.1382C>G (p.Thr461Ser) rs189982575 0.00028
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.69+4T>C rs570913772 0.00021
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.599G>A (p.Gly200Asp) rs373951297 0.00012
NM_001128178.3(NPHP1):c.805G>A (p.Gly269Arg) rs768608137 0.00010
NM_000272.3(NPHP1):c.-54C>T rs777453061 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_000272.4(NPHP1):c.*460T>A rs960612307 0.00008
NM_001128178.3(NPHP1):c.1058G>A (p.Arg353His) rs766289967 0.00008
NM_001128178.3(NPHP1):c.1530-4A>G rs370945279 0.00008
NM_001128178.3(NPHP1):c.1234A>G (p.Ile412Val) rs958211666 0.00006
NM_001128178.3(NPHP1):c.1761+5A>C rs201030203 0.00006
NM_001128178.3(NPHP1):c.202A>C (p.Lys68Gln) rs748557384 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.811A>G (p.Ile271Val) rs750291966 0.00005
NM_001128178.3(NPHP1):c.*238T>C rs897567205 0.00004
NM_001128178.3(NPHP1):c.1252A>G (p.Ile418Val) rs577560349 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.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.1943C>G (p.Ala648Gly) rs779089046 0.00003
NM_001128178.3(NPHP1):c.426G>T (p.Glu142Asp) rs765568261 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.1578G>C (p.Leu526Phe) rs376737714 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.1883G>A (p.Arg628Gln) rs768137941 0.00002
NM_001128178.3(NPHP1):c.1897A>G (p.Thr633Ala) rs764769662 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.385_387del (p.Ser129del) rs753643526 0.00002
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser) rs769509705 0.00002
NM_001128178.3(NPHP1):c.475G>A (p.Ala159Thr) rs372855293 0.00002
NM_001128178.3(NPHP1):c.872G>A (p.Arg291Gln) rs751387472 0.00002
NM_001128178.3(NPHP1):c.*322A>G rs886054752 0.00001
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.1018C>T (p.Leu340Phe) rs777385746 0.00001
NM_001128178.3(NPHP1):c.1162A>G (p.Thr388Ala) rs755943785 0.00001
NM_001128178.3(NPHP1):c.1186G>C (p.Asp396His) rs1285357819 0.00001
NM_001128178.3(NPHP1):c.1402G>A (p.Glu468Lys) rs1186755904 0.00001
NM_001128178.3(NPHP1):c.1435G>A (p.Gly479Ser) rs774251781 0.00001
NM_001128178.3(NPHP1):c.1436G>A (p.Gly479Asp) rs960255611 0.00001
NM_001128178.3(NPHP1):c.1448A>G (p.Tyr483Cys) rs1283995363 0.00001
NM_001128178.3(NPHP1):c.1456A>G (p.Met486Val) rs1054886885 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.1558A>G (p.Met520Val) rs141786398 0.00001
NM_001128178.3(NPHP1):c.1565C>T (p.Ser522Phe) rs756812918 0.00001
NM_001128178.3(NPHP1):c.1597C>A (p.Leu533Ile) rs776530596 0.00001
NM_001128178.3(NPHP1):c.1663C>G (p.Leu555Val) rs770266229 0.00001
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr) rs147090619 0.00001
NM_001128178.3(NPHP1):c.1706A>T (p.Asp569Val) rs778619698 0.00001
NM_001128178.3(NPHP1):c.1716+15T>C rs368590150 0.00001
NM_001128178.3(NPHP1):c.1739G>A (p.Ser580Asn) rs1408406395 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.1813G>A (p.Val605Met) rs770956057 0.00001
NM_001128178.3(NPHP1):c.1837C>T (p.Arg613Cys) rs543675502 0.00001
NM_001128178.3(NPHP1):c.1867G>C (p.Glu623Gln) rs1418617951 0.00001
NM_001128178.3(NPHP1):c.1895T>C (p.Ile632Thr) rs1212945698 0.00001
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=) rs767719020 0.00001
NM_001128178.3(NPHP1):c.330-9T>G rs748197517 0.00001
NM_001128178.3(NPHP1):c.356A>G (p.Glu119Gly) rs745835094 0.00001
NM_001128178.3(NPHP1):c.368G>A (p.Ser123Asn) rs781291281 0.00001
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=) rs143163969 0.00001
NM_001128178.3(NPHP1):c.472A>G (p.Ile158Val) rs745768183 0.00001
NM_001128178.3(NPHP1):c.529G>A (p.Glu177Lys) rs772166657 0.00001
NM_001128178.3(NPHP1):c.604G>C (p.Val202Leu) rs753605280 0.00001
NM_001128178.3(NPHP1):c.771+137G>A rs779083426 0.00001
NM_001128178.3(NPHP1):c.771+139A>G rs1345383804 0.00001
NM_001128178.3(NPHP1):c.771+3G>A rs1365022834 0.00001
NM_001128178.3(NPHP1):c.817G>A (p.Ala273Thr) rs751003854 0.00001
NM_001128178.3(NPHP1):c.875C>T (p.Ala292Val) rs1179796852 0.00001
NM_001128178.3(NPHP1):c.922A>G (p.Arg308Gly) rs1404351082 0.00001
NM_001128178.3(NPHP1):c.949G>A (p.Gly317Ser) rs1212929849 0.00001
NM_001128178.3(NPHP1):c.973C>T (p.Arg325Cys) rs748435719 0.00001
NM_001128178.3(NPHP1):c.974G>A (p.Arg325His) rs779098996 0.00001
NC_000002.11:g.(?_110907739)_(110962545_?)dup
NC_000002.11:g.(?_110962457)_(110962545_?)dup
NC_000002.12:g.(?_110123791)_(110161697_?)dup
NC_000002.12:g.(?_110123791)_(110164730_?)dup
NC_000002.12:g.(?_110123791)_(110201494_?)dup
NC_000002.12:g.(?_110168442)_(110204968_?)dup
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001128178.3(NPHP1):c.*199A>G rs1679131109
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.1003T>C (p.Cys335Arg) rs112297047
NM_001128178.3(NPHP1):c.1016C>A (p.Pro339His) rs746482479
NM_001128178.3(NPHP1):c.1022C>G (p.Pro341Arg)
NM_001128178.3(NPHP1):c.1033A>C (p.Ile345Leu) rs1365124220
NM_001128178.3(NPHP1):c.1047C>A (p.Ser349Arg) rs2104542406
NM_001128178.3(NPHP1):c.1049G>A (p.Arg350Lys) rs754768821
NM_001128178.3(NPHP1):c.1083+6G>T
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.1166G>A (p.Arg389His) rs140979636
NM_001128178.3(NPHP1):c.1166G>C (p.Arg389Pro) rs140979636
NM_001128178.3(NPHP1):c.1177T>C (p.Cys393Arg)
NM_001128178.3(NPHP1):c.1190G>T (p.Gly397Val) rs1681189257
NM_001128178.3(NPHP1):c.11G>A (p.Arg4Lys)
NM_001128178.3(NPHP1):c.1211A>G (p.Asn404Ser) rs1681187580
NM_001128178.3(NPHP1):c.1211_1213del (p.Asn404_Ser405delinsThr) rs1681187208
NM_001128178.3(NPHP1):c.1229T>C (p.Leu410Pro) rs765450176
NM_001128178.3(NPHP1):c.1231G>A (p.Gly411Arg) rs759936705
NM_001128178.3(NPHP1):c.1247T>G (p.Leu416Arg)
NM_001128178.3(NPHP1):c.1263T>G (p.Ile421Met) rs2104496731
NM_001128178.3(NPHP1):c.1264C>T (p.Arg422Cys)
NM_001128178.3(NPHP1):c.1265G>A (p.Arg422His) rs773810185
NM_001128178.3(NPHP1):c.1265G>T (p.Arg422Leu) rs773810185
NM_001128178.3(NPHP1):c.1268A>G (p.Asn423Ser)
NM_001128178.3(NPHP1):c.1269+17A>G
NM_001128178.3(NPHP1):c.1269T>C (p.Asn423=)
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln) rs886054753
NM_001128178.3(NPHP1):c.1346C>T (p.Pro449Leu) rs2104492226
NM_001128178.3(NPHP1):c.1352+5G>A rs1681080526
NM_001128178.3(NPHP1):c.1363C>T (p.Leu455Phe)
NM_001128178.3(NPHP1):c.1371G>T (p.Leu457Phe) rs2104483940
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys) rs1212780955
NM_001128178.3(NPHP1):c.1384C>T (p.Pro462Ser)
NM_001128178.3(NPHP1):c.1412C>T (p.Pro471Leu)
NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys)
NM_001128178.3(NPHP1):c.143G>A (p.Arg48Lys) rs779393628
NM_001128178.3(NPHP1):c.144-6A>G rs2104616583
NM_001128178.3(NPHP1):c.1441G>A (p.Val481Ile)
NM_001128178.3(NPHP1):c.1460C>A (p.Thr487Lys) rs1680806014
NM_001128178.3(NPHP1):c.1460C>T (p.Thr487Ile) rs1680806014
NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) rs373953762
NM_001128178.3(NPHP1):c.146G>A (p.Cys49Tyr)
NM_001128178.3(NPHP1):c.1470G>T (p.Arg490Ser) rs1680804337
NM_001128178.3(NPHP1):c.1474C>A (p.Pro492Thr)
NM_001128178.3(NPHP1):c.1475C>T (p.Pro492Leu)
NM_001128178.3(NPHP1):c.1521T>G (p.Asn507Lys) rs2104479969
NM_001128178.3(NPHP1):c.1522G>A (p.Val508Ile)
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu) rs573192954
NM_001128178.3(NPHP1):c.1528A>T (p.Ser510Cys) rs995292402
NM_001128178.3(NPHP1):c.152A>C (p.Gln51Pro)
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=) rs1679799639
NM_001128178.3(NPHP1):c.1559T>A (p.Met520Lys) rs1318488822
NM_001128178.3(NPHP1):c.1559T>C (p.Met520Thr) rs1318488822
NM_001128178.3(NPHP1):c.1577T>G (p.Leu526Trp) rs1314119987
NM_001128178.3(NPHP1):c.1591C>G (p.Gln531Glu) rs1559045921
NM_001128178.3(NPHP1):c.1599T>A (p.Leu533=) rs2104437967
NM_001128178.3(NPHP1):c.1641T>C (p.Thr547=)
NM_001128178.3(NPHP1):c.1652G>A (p.Ser551Asn)
NM_001128178.3(NPHP1):c.1660A>G (p.Met554Val) rs1679599536
NM_001128178.3(NPHP1):c.1666G>T (p.Ala556Ser) rs746510153
NM_001128178.3(NPHP1):c.1672T>C (p.Phe558Leu) rs2104428780
NM_001128178.3(NPHP1):c.1679T>G (p.Met560Arg)
NM_001128178.3(NPHP1):c.1693C>G (p.Pro565Ala) rs147090619
NM_001128178.3(NPHP1):c.1699G>A (p.Val567Met)
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1716+4G>A
NM_001128178.3(NPHP1):c.1716+5G>A
NM_001128178.3(NPHP1):c.1716+5G>T
NM_001128178.3(NPHP1):c.1717-5T>G rs1679303713
NM_001128178.3(NPHP1):c.1747A>G (p.Lys583Glu) rs1188653340
NM_001128178.3(NPHP1):c.1753T>C (p.Ser585Pro)
NM_001128178.3(NPHP1):c.1762-1G>A rs2104409792
NM_001128178.3(NPHP1):c.1774T>C (p.Phe592Leu) rs1679177926
NM_001128178.3(NPHP1):c.1784C>T (p.Ser595Phe)
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp) rs538690900
NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg)
NM_001128178.3(NPHP1):c.1807G>C (p.Asp603His) rs745639828
NM_001128178.3(NPHP1):c.1807G>T (p.Asp603Tyr) rs745639828
NM_001128178.3(NPHP1):c.1810T>G (p.Cys604Gly) rs2104409598
NM_001128178.3(NPHP1):c.1816C>T (p.Leu606Phe)
NM_001128178.3(NPHP1):c.1835C>T (p.Thr612Ile) rs2104409447
NM_001128178.3(NPHP1):c.1838G>A (p.Arg613His) rs566866150
NM_001128178.3(NPHP1):c.1838G>C (p.Arg613Pro)
NM_001128178.3(NPHP1):c.184G>A (p.Ala62Thr) rs886043591
NM_001128178.3(NPHP1):c.1863A>C (p.Glu621Asp)
NM_001128178.3(NPHP1):c.1882C>T (p.Arg628Trp) rs141686332
NM_001128178.3(NPHP1):c.1891G>T (p.Val631Phe)
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.1936C>T (p.Leu646Phe)
NM_001128178.3(NPHP1):c.1943C>T (p.Ala648Val)
NM_001128178.3(NPHP1):c.1955C>T (p.Pro652Leu)
NM_001128178.3(NPHP1):c.1966C>T (p.His656Tyr) rs1679151001
NM_001128178.3(NPHP1):c.1990dup (p.Gln664fs)
NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile)
NM_001128178.3(NPHP1):c.199A>G (p.Ser67Gly) rs1683747045
NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly)
NM_001128178.3(NPHP1):c.200G>A (p.Ser67Asn) rs1206786239
NM_001128178.3(NPHP1):c.2019A>C (p.Arg673Ser) rs2104408356
NM_001128178.3(NPHP1):c.205G>C (p.Ala69Pro) rs753950057
NM_001128178.3(NPHP1):c.220C>G (p.Pro74Ala)
NM_001128178.3(NPHP1):c.231C>G (p.Asn77Lys) rs1373708368
NM_001128178.3(NPHP1):c.236A>T (p.Asn79Ile) rs2104612175
NM_001128178.3(NPHP1):c.263T>C (p.Leu88Pro)
NM_001128178.3(NPHP1):c.28C>G (p.Leu10Val) rs1422250227
NM_001128178.3(NPHP1):c.292G>C (p.Gly98Arg) rs1273570018
NM_001128178.3(NPHP1):c.304A>G (p.Thr102Ala) rs2104611760
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.335G>A (p.Gly112Glu)
NM_001128178.3(NPHP1):c.337G>T (p.Ala113Ser) rs1683007830
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys) rs1408606648
NM_001128178.3(NPHP1):c.378T>G (p.Ser126Arg) rs1683002730
NM_001128178.3(NPHP1):c.386G>C (p.Ser129Thr)
NM_001128178.3(NPHP1):c.389G>A (p.Gly130Asp) rs2104578629
NM_001128178.3(NPHP1):c.395A>G (p.Glu132Gly)
NM_001128178.3(NPHP1):c.404A>G (p.Asp135Gly) rs747176517
NM_001128178.3(NPHP1):c.410A>T (p.Glu137Val)
NM_001128178.3(NPHP1):c.415G>C (p.Glu139Gln)
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.44G>T (p.Arg15Leu) rs774386187
NM_001128178.3(NPHP1):c.452G>C (p.Trp151Ser) rs894279022
NM_001128178.3(NPHP1):c.472A>T (p.Ile158Phe)
NM_001128178.3(NPHP1):c.475G>T (p.Ala159Ser) rs372855293
NM_001128178.3(NPHP1):c.482G>C (p.Gly161Ala)
NM_001128178.3(NPHP1):c.49A>G (p.Asn17Asp)
NM_001128178.3(NPHP1):c.522+4G>C
NM_001128178.3(NPHP1):c.522+5_522+8del rs1411070570
NM_001128178.3(NPHP1):c.523-14T>A
NM_001128178.3(NPHP1):c.526G>C (p.Gly176Arg)
NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro)
NM_001128178.3(NPHP1):c.545T>C (p.Ile182Thr)
NM_001128178.3(NPHP1):c.560A>G (p.Asp187Gly)
NM_001128178.3(NPHP1):c.562G>A (p.Gly188Ser) rs1682878259
NM_001128178.3(NPHP1):c.568T>C (p.Trp190Arg) rs1682877562
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_001128178.3(NPHP1):c.604G>T (p.Val202Phe)
NM_001128178.3(NPHP1):c.608C>G (p.Pro203Arg)
NM_001128178.3(NPHP1):c.629A>G (p.Tyr210Cys) rs1273893174
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001128178.3(NPHP1):c.644_645delinsGC (p.Glu215Gly) rs1682631627
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_001128178.3(NPHP1):c.670A>G (p.Ser224Gly) rs2104562029
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp) rs947765689
NM_001128178.3(NPHP1):c.681T>G (p.Asp227Glu) rs2104561993
NM_001128178.3(NPHP1):c.68A>T (p.Gln23Leu)
NM_001128178.3(NPHP1):c.695A>T (p.Asp232Val)
NM_001128178.3(NPHP1):c.706G>C (p.Asp236His) rs2104561811
NM_001128178.3(NPHP1):c.712G>T (p.Ala238Ser) rs201661196
NM_001128178.3(NPHP1):c.722A>C (p.Lys241Thr)
NM_001128178.3(NPHP1):c.736C>T (p.Pro246Ser) rs2104560350
NM_001128178.3(NPHP1):c.757A>G (p.Lys253Glu)
NM_001128178.3(NPHP1):c.770A>T (p.Glu257Val) rs1291806248
NM_001128178.3(NPHP1):c.771+101C>G rs1352920059
NM_001128178.3(NPHP1):c.771+104G>C
NM_001128178.3(NPHP1):c.771+136C>A rs142670785
NM_001128178.3(NPHP1):c.771+136C>T
NM_001128178.3(NPHP1):c.771+148G>T rs753796140
NM_001128178.3(NPHP1):c.771+158C>T rs2104559150
NM_001128178.3(NPHP1):c.771+172A>C
NM_001128178.3(NPHP1):c.771+178C>T rs767903893
NM_001128178.3(NPHP1):c.771+23A>C
NM_001128178.3(NPHP1):c.771+26A>G
NM_001128178.3(NPHP1):c.771+52C>G
NM_001128178.3(NPHP1):c.771+65G>A rs2104559817
NM_001128178.3(NPHP1):c.771+65G>T
NM_001128178.3(NPHP1):c.771+76G>A rs772549591
NM_001128178.3(NPHP1):c.772-5T>C rs201478764
NM_001128178.3(NPHP1):c.775A>G (p.Ile259Val)
NM_001128178.3(NPHP1):c.804G>A (p.Met268Ile)
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg) rs886054754
NM_001128178.3(NPHP1):c.845A>G (p.Gln282Arg)
NM_001128178.3(NPHP1):c.845A>T (p.Gln282Leu)
NM_001128178.3(NPHP1):c.847C>G (p.Leu283Val) rs757063331
NM_001128178.3(NPHP1):c.883T>G (p.Phe295Val) rs2104548598
NM_001128178.3(NPHP1):c.890A>G (p.Gln297Arg) rs747172399
NM_001128178.3(NPHP1):c.8C>G (p.Ala3Gly) rs1685843048
NM_001128178.3(NPHP1):c.910C>A (p.Gln304Lys) rs1335925956
NM_001128178.3(NPHP1):c.913C>G (p.Leu305Val) rs748446911
NM_001128178.3(NPHP1):c.916G>T (p.Ala306Ser)
NM_001128178.3(NPHP1):c.937G>T (p.Asp313Tyr)
NM_001128178.3(NPHP1):c.954+5G>T rs1242271896
NM_001128178.3(NPHP1):c.959G>A (p.Arg320Lys)
NM_001128178.3(NPHP1):c.962C>T (p.Ser321Leu)
NM_001128178.3(NPHP1):c.976A>G (p.Ile326Val)
NM_001128178.3(NPHP1):c.983T>C (p.Leu328Ser)
NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) rs794727018

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