ClinVar Miner

List of variants in gene NPHS1 reported as pathogenic

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Total variants: 40
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HGVS dbSNP
NM_004646.3(NPHS1):c.1099C>T (p.Arg367Cys) rs386833865
NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) rs386833873
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.3(NPHS1):c.1481del (p.Ser494fs) rs386833883
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1756A>G (p.Arg586Gly) rs730880174
NM_004646.3(NPHS1):c.1758-8_1785del rs386833891
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.2206G>A (p.Val736Met) rs1131692245
NM_004646.3(NPHS1):c.2335-1G>A rs150038620
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.2479C>T (p.Arg827Ter) rs140018064
NM_004646.3(NPHS1):c.2515del (p.Gln839fs) rs386833918
NM_004646.3(NPHS1):c.2536_2539CTAA[1] (p.Thr847fs) rs1244884053
NM_004646.3(NPHS1):c.2633dup (p.Asn878fs)
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.2847_2853del (p.Val949_Val950insTer) rs886042517
NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762
NM_004646.3(NPHS1):c.3027C>G (p.Tyr1009Ter) rs762184939
NM_004646.3(NPHS1):c.3250del (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042
NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173
NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919
NM_004646.3(NPHS1):c.468C>G (p.Tyr156Ter) rs386833943
NM_004646.3(NPHS1):c.532C>T (p.Gln178Ter) rs386833951
NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.3(NPHS1):c.574C>T (p.Gln192Ter) rs386833953
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.736G>T (p.Glu246Ter) rs386833959
NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg) rs267606917
NM_004646.3(NPHS1):c.802C>T (p.Arg268Ter) rs749341977
NM_004646.3(NPHS1):c.808G>T (p.Gly270Cys) rs386833961
NM_004646.3(NPHS1):c.928G>A (p.Asp310Asn) rs763972372
NM_004646.3(NPHS1):c.[1339G>A;2456A>T]
NPHS1, 1-BP INS, 3250G

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