ClinVar Miner

List of variants studied for Steroid-resistant nephrotic syndrome by Natera, Inc.

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.102A>G (p.Gly34=) rs1079292 0.94555
NM_014625.4(NPHS2):c.954C>T (p.Ala318=) rs1410592 0.61660
NM_014625.4(NPHS2):c.-116C>T rs1079291 0.22397
NM_014625.4(NPHS2):c.1038A>G (p.Leu346=) rs3818587 0.08745
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
NM_014625.4(NPHS2):c.873+7A>G rs115778946 0.03013
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_014625.4(NPHS2):c.124G>A (p.Gly42Arg) rs559836164 0.00365
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_014625.4(NPHS2):c.709G>C (p.Glu237Gln) rs146906190 0.00040
NM_014625.4(NPHS2):c.144C>T (p.Ser48=) rs111306764 0.00031
NM_014625.4(NPHS2):c.873+10C>T rs536934083 0.00019
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu) rs775006954 0.00011
NM_014625.4(NPHS2):c.671G>A (p.Arg224His) rs138545216 0.00010
NM_014625.4(NPHS2):c.126G>A (p.Gly42=) rs769791509 0.00007
NM_014625.4(NPHS2):c.372C>T (p.Cys124=) rs139290621 0.00006
NM_014625.4(NPHS2):c.885A>G (p.Ala295=) rs146940071 0.00006
NM_014625.4(NPHS2):c.874-11_874-10del rs774075788 0.00005
NM_014625.4(NPHS2):c.1113G>A (p.Glu371=) rs751795698 0.00004
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.948del (p.Ala317fs) rs775170915 0.00003
NM_014625.4(NPHS2):c.390G>A (p.Glu130=) rs142188956 0.00002
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014625.4(NPHS2):c.1097C>T (p.Pro366Leu) rs774347501 0.00001
NM_014625.4(NPHS2):c.120G>A (p.Glu40=) rs1183621605 0.00001
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.615C>T (p.Ser205=) rs778514784 0.00001
NM_014625.4(NPHS2):c.745T>C (p.Leu249=) rs1171758025 0.00001
NM_014625.4(NPHS2):c.-185T>C rs115256710
NM_014625.4(NPHS2):c.1032del (p.Phe344fs) rs1673229720
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser) rs1040479346
NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) rs776016821
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.452-17CTC[2] rs755282277
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.548A>G (p.Asp183Gly) rs1673967924
NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser) rs748812981
NM_014625.4(NPHS2):c.794+10A>C rs1673783008
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
NM_014625.4(NPHS2):c.87C>T (p.Ala29=) rs12123397

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