ClinVar Miner

List of variants in gene NPHS1 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1440+19C>T rs113470432 0.00498
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.699C>T (p.Thr233=) rs144398621 0.00042
NM_004646.4(NPHS1):c.3243C>T (p.Val1081=) rs370276697 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.2482C>A (p.Arg828=) rs142956465 0.00016
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_004646.4(NPHS1):c.1155G>A (p.Glu385=) rs139509052 0.00014
NM_004646.4(NPHS1):c.2874G>T (p.Gly958=) rs752337753 0.00014
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.1012+17G>C rs373353156 0.00012
NM_004646.4(NPHS1):c.558C>T (p.Asn186=) rs370625224 0.00012
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 0.00011
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.1113G>C (p.Leu371=) rs547598963 0.00008
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.1316-6C>T rs756437220 0.00006
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.3114C>T (p.Leu1038=) rs373756773 0.00006
NM_004646.4(NPHS1):c.3594+13G>T rs756165265 0.00006
NM_004646.4(NPHS1):c.1185T>C (p.Gly395=) rs149815919 0.00005
NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915 0.00005
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.1998G>T (p.Leu666=) rs569310327 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 0.00003
NM_004646.4(NPHS1):c.2664-7T>C rs910612404 0.00003
NM_004646.4(NPHS1):c.2724C>T (p.Asn908=) rs200269176 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.3481+1G>T rs142883811 0.00003
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val) rs781117481 0.00003
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys) rs549487912 0.00002
NM_004646.4(NPHS1):c.2394G>A (p.Thr798=) rs745911246 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys) rs376172729 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.822_840+6dup rs779725493 0.00002
NM_004646.4(NPHS1):c.841-12C>G rs532123637 0.00002
NM_004646.4(NPHS1):c.915C>T (p.Thr305=) rs751438123 0.00002
NM_004646.4(NPHS1):c.939G>A (p.Ala313=) rs775863701 0.00002
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.2634C>T (p.Asn878=) rs746676515 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg) rs768707154 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys) rs760440966 0.00001
NM_004646.4(NPHS1):c.3546G>A (p.Thr1182=) rs761090110 0.00001
NM_004646.4(NPHS1):c.3594+9C>T rs766396905 0.00001
NM_004646.4(NPHS1):c.393C>T (p.Ile131=) rs181246281 0.00001
NM_004646.4(NPHS1):c.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter) rs753535989
NM_004646.4(NPHS1):c.1131C>T (p.Gly377=) rs1450827580
NM_004646.4(NPHS1):c.1296G>A (p.Ser432=) rs766646699
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.4(NPHS1):c.1931-16G>A rs1392236567
NM_004646.4(NPHS1):c.1935T>C (p.Arg645=) rs2146822391
NM_004646.4(NPHS1):c.2001C>T (p.Pro667=) rs1437050024
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2259C>T (p.Val753=) rs766951918
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2927+2T>A rs1973023048
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) rs2146816256
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.312C>T (p.Ser104=) rs114540811
NM_004646.4(NPHS1):c.3228C>T (p.Ser1076=) rs1003131306
NM_004646.4(NPHS1):c.3249G>C (p.Gly1083=) rs779723501
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3387+9G>A rs1381677154
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3438C>T (p.Ser1146=) rs1324557507
NM_004646.4(NPHS1):c.3482-7A>C rs73928326
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.360C>G (p.Pro120=) rs371652869
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.415C>T (p.Leu139=) rs2146831286
NM_004646.4(NPHS1):c.429G>A (p.Glu143=) rs1173468417
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.570C>T (p.Gly190=) rs1475015789
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser) rs1338171450
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.896G>A (p.Arg299His) rs755582721

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