ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance for Finnish congenital nephrotic syndrome

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Total variants: 47
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HGVS dbSNP
NM_004646.3(NPHS1):c.*488T>C rs886054346
NM_004646.3(NPHS1):c.1019C>A (p.Pro340His) rs386833861
NM_004646.3(NPHS1):c.1021_1023del (p.Ser341del) rs1555763370
NM_004646.3(NPHS1):c.1039G>A (p.Gly347Arg) rs1555763367
NM_004646.3(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789
NM_004646.3(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.3(NPHS1):c.1170+7C>T rs906888001
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1440+11C>T rs750251097
NM_004646.3(NPHS1):c.1440+2T>C rs1568455470
NM_004646.3(NPHS1):c.1536_1541GCTGGT[1] (p.513_514LV[1]) rs1555762721
NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) rs368913905
NM_004646.3(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230
NM_004646.3(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.1822G>A (p.Val608Ile) rs367976914
NM_004646.3(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747
NM_004646.3(NPHS1):c.2276T>C (p.Ile759Thr)
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.2506+5G>T rs762704370
NM_004646.3(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.3(NPHS1):c.2719G>A (p.Ala907Thr) rs1555761935
NM_004646.3(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.3(NPHS1):c.2815+3A>G rs1223946044
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.3(NPHS1):c.320C>T (p.Ala107Val) rs386833934
NM_004646.3(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.3(NPHS1):c.3281_3283del (p.Ala1094del) rs778137714
NM_004646.3(NPHS1):c.3286+5G>A rs1555759089
NM_004646.3(NPHS1):c.3287-11G>A rs1175331248
NM_004646.3(NPHS1):c.3312-23C>T rs755493354
NM_004646.3(NPHS1):c.3528_3530TGA[1] (p.Asp1177del) rs887991752
NM_004646.3(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.3(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.3(NPHS1):c.361G>A (p.Glu121Lys) rs1403580615
NM_004646.3(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.3(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
NM_004646.3(NPHS1):c.644T>G (p.Leu215Arg) rs755962215
NM_004646.3(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.3(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.3(NPHS1):c.822_840+6dup25 rs779725493
NM_004646.3(NPHS1):c.895C>T (p.Arg299Cys) rs753476209
NM_004646.3(NPHS1):c.896G>C (p.Arg299Pro) rs755582721
NM_004646.3(NPHS1):c.925G>A (p.Glu309Lys) rs950655735

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