ClinVar Miner

Variants in gene NPHS1 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
221 14 22 38 11 0 3 64

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 23 1 0 0
likely pathogenic 23 22 1 1 0
uncertain significance 1 1 0 7 8
likely benign 0 1 7 0 15
benign 0 0 8 15 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1275delC (p.Lys426Argfs) rs386833876
NM_004646.3(NPHS1):c.128T>C (p.Val43Ala) rs140626538
NM_004646.3(NPHS1):c.1307_1308dupAC (p.Val437Thrfs) rs386833878
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.139delG (p.Ala47Profs) rs386833882
NM_004646.3(NPHS1):c.1481delC (p.Ser494Cysfs) rs386833883
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1758-11C>G rs145554982
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2156_2163delTGCACTGC (p.Leu719Profs) rs386833903
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2515delC (p.Gln839Argfs) rs386833918
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762
NM_004646.3(NPHS1):c.294C>T (p.Ile98=) rs2285450
NM_004646.3(NPHS1):c.2971G>C (p.Val991Leu) rs34736717
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.3250delG (p.Val1084Serfs) rs386833935
NM_004646.3(NPHS1):c.3250dupG (p.Val1084Glyfs) rs386833935
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
NM_004646.3(NPHS1):c.398-1G>A rs386833942
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.515_517delCCA (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.534delG (p.Thr179Glnfs) rs386833952
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.3(NPHS1):c.597G>A (p.Glu199=) rs61731102
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961

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