ClinVar Miner

List of variants reported as uncertain significance for congenital nephrotic syndrome, Finnish type by Counsyl

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499 0.00014
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys) rs950655735 0.00003
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.822_840+6dup rs779725493 0.00002
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.3312-23C>T rs755493354 0.00001
NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg) rs755962215 0.00001
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del) rs1555763370
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg) rs1555763367
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1]) rs1555762721
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr) rs1555761935
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.4(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del) rs778137714
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3287-11G>A rs1175331248
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.361G>A (p.Glu121Lys) rs1403580615
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro) rs755582721

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