ClinVar Miner

List of variants studied for Finnish congenital nephrotic syndrome by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004646.3(NPHS1):c.-170T>C rs401824 0.16554
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919 0.00010
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762 0.00004
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880 0.00002
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.1440+11C>T rs750251097 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004646.4(NPHS1):c.*488T>C rs886054346
NM_004646.4(NPHS1):c.1440+2T>C rs1568455470
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys) rs2146816353
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.4(NPHS1):c.847C>T (p.Gln283Ter)

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