ClinVar Miner

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

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Total variants: 70
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HGVS dbSNP
NM_004646.3(NPHS1):c.*1020C>T rs564256430
NM_004646.3(NPHS1):c.*1021G>A rs536792618
NM_004646.3(NPHS1):c.*1040C>T rs181405524
NM_004646.3(NPHS1):c.*1119A>C rs74509387
NM_004646.3(NPHS1):c.*250G>A rs117894015
NM_004646.3(NPHS1):c.*488T>C rs886054346
NM_004646.3(NPHS1):c.*529C>T rs148755697
NM_004646.3(NPHS1):c.*538G>A rs71354105
NM_004646.3(NPHS1):c.*609G>A rs144206206
NM_004646.3(NPHS1):c.*706A>G rs80296922
NM_004646.3(NPHS1):c.*759A>T rs886054345
NM_004646.3(NPHS1):c.*82G>T rs569295487
NM_004646.3(NPHS1):c.*958G>T rs886054344
NM_004646.3(NPHS1):c.-170T>C rs401824
NM_004646.3(NPHS1):c.-31C>T rs376050812
NM_004646.3(NPHS1):c.-57G>T rs140404523
NM_004646.3(NPHS1):c.-61G>A rs75799457
NM_004646.3(NPHS1):c.-81C>G rs73928331
NM_004646.3(NPHS1):c.1110T>C (p.Val370=) rs116459838
NM_004646.3(NPHS1):c.115G>A (p.Glu39Lys) rs375670819
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.1440+11C>T rs750251097
NM_004646.3(NPHS1):c.1440+2T>C rs1568455470
NM_004646.3(NPHS1):c.151C>T (p.Leu51=) rs114385015
NM_004646.3(NPHS1):c.1598T>C (p.Leu533Pro) rs886054351
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004646.3(NPHS1):c.1758-11C>G rs145554982
NM_004646.3(NPHS1):c.1799A>G (p.Lys600Arg) rs566516658
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.1926A>G (p.Val642=) rs114728208
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.2072C>A (p.Ala691Glu) rs886054349
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2469G>A (p.Ala823=) rs371646734
NM_004646.3(NPHS1):c.2654A>T (p.Gln885Leu) rs886054348
NM_004646.3(NPHS1):c.2686C>G (p.Gln896Glu) rs771594710
NM_004646.3(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054
NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762
NM_004646.3(NPHS1):c.294C>T (p.Ile98=) rs2285450
NM_004646.3(NPHS1):c.2961T>C (p.Tyr987=) rs201263480
NM_004646.3(NPHS1):c.2971G>C (p.Val991Leu) rs34736717
NM_004646.3(NPHS1):c.3166+14C>A rs886054347
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.3206T>C (p.Leu1069Pro) rs756273676
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.3311+14T>C rs375587420
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.3364G>C (p.Glu1122Gln) rs548792892
NM_004646.3(NPHS1):c.3388-14C>T rs371907999
NM_004646.3(NPHS1):c.3419G>A (p.Arg1140His) rs369787477
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
NM_004646.3(NPHS1):c.397+15C>T rs78237760
NM_004646.3(NPHS1):c.427G>C (p.Glu143Gln) rs540253444
NM_004646.3(NPHS1):c.428A>T (p.Glu143Val) rs781117481
NM_004646.3(NPHS1):c.485C>G (p.Ser162Cys) rs376172729
NM_004646.3(NPHS1):c.505C>A (p.Pro169Thr) rs886054353
NM_004646.3(NPHS1):c.597G>A (p.Glu199=) rs61731102
NM_004646.3(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.3(NPHS1):c.733A>C (p.Ile245Leu) rs370046047
NM_004646.3(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.3(NPHS1):c.895C>T (p.Arg299Cys) rs753476209
NM_004646.3(NPHS1):c.916G>A (p.Val306Met) rs769719915

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