ClinVar Miner

List of variants in gene NPHS1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) rs3814995 0.25613
NM_004646.4(NPHS1):c.2289C>T (p.Val763=) rs437168 0.15697
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_004646.4(NPHS1):c.1758-11C>G rs145554982 0.00802
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00138
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
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.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.802C>T (p.Arg268Ter) rs749341977 0.00006
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004646.4(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887 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.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.2600G>A (p.Gly867Asp) rs753656470 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042 0.00002
NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173 0.00002
NM_004646.4(NPHS1):c.574C>T (p.Gln192Ter) rs386833953 0.00002
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 0.00001
NM_004646.4(NPHS1):c.1481del (p.Ser494fs) rs386833883 0.00001
NM_004646.4(NPHS1):c.1954C>T (p.Gln652Ter) rs386833899 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2479C>T (p.Arg827Ter) rs140018064 0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.532C>T (p.Gln178Ter) rs386833951 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del
NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del
NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_004646.4(NPHS1):c.1154A>G (p.Glu385Gly)
NM_004646.4(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.1315+1G>A
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.1726G>T (p.Val576Phe) rs1973129887
NM_004646.4(NPHS1):c.1760T>G (p.Leu587Arg) rs386833892
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
NM_004646.4(NPHS1):c.2387del (p.Gly796fs) rs1568453378
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2541del (p.Lys848fs) rs1555761997
NM_004646.4(NPHS1):c.2587T>C (p.Cys863Arg)
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys) rs2146816353
NM_004646.4(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.4(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)
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.3594+2T>C
NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
NM_004646.4(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.4(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.4(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004646.4(NPHS1):c.866G>A (p.Trp289Ter) rs781584590

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