ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance

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Total variants: 108
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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.*250G>A rs117894015
NM_004646.3(NPHS1):c.*488T>C rs886054346
NM_004646.3(NPHS1):c.*529C>T rs148755697
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.1021_1023delAGT (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.1110T>C (p.Val370=) rs116459838
NM_004646.3(NPHS1):c.1131_1133delCTG (p.Trp378del) rs1555763317
NM_004646.3(NPHS1):c.115G>A (p.Glu39Lys) rs375670819
NM_004646.3(NPHS1):c.1170+7C>T rs906888001
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.128T>C (p.Val43Ala) rs140626538
NM_004646.3(NPHS1):c.1297C>T (p.Leu433Phe) rs730880173
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
NM_004646.3(NPHS1):c.151C>T (p.Leu51=) rs114385015
NM_004646.3(NPHS1):c.1542_1547del6 (p.Leu515_Val516del) rs1555762721
NM_004646.3(NPHS1):c.1598T>C (p.Leu533Pro) rs886054351
NM_004646.3(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) rs368913905
NM_004646.3(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
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.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.1822G>A (p.Val608Ile) rs367976914
NM_004646.3(NPHS1):c.1850A>G (p.His617Arg)
NM_004646.3(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.3(NPHS1):c.1926A>G (p.Val642=) rs114728208
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.2026C>T (p.Pro676Ser) rs746189747
NM_004646.3(NPHS1):c.2054G>A (p.Gly685Asp)
NM_004646.3(NPHS1):c.2072C>A (p.Ala691Glu) rs886054349
NM_004646.3(NPHS1):c.212T>C (p.Leu71Pro)
NM_004646.3(NPHS1):c.2349_2351del (p.Glu783del)
NM_004646.3(NPHS1):c.2446T>C (p.Cys816Arg)
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.2469G>A (p.Ala823=) rs371646734
NM_004646.3(NPHS1):c.2506+5G>T
NM_004646.3(NPHS1):c.2588G>T (p.Cys863Phe)
NM_004646.3(NPHS1):c.2654A>T (p.Gln885Leu) rs886054348
NM_004646.3(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.3(NPHS1):c.2686C>G (p.Gln896Glu) rs771594710
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.2758T>A (p.Cys920Ser)
NM_004646.3(NPHS1):c.2815+3A>G rs1223946044
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175
NM_004646.3(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054
NM_004646.3(NPHS1):c.2961T>C (p.Tyr987=) rs201263480
NM_004646.3(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.3(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499
NM_004646.3(NPHS1):c.3166+14C>A rs886054347
NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu) rs201503587
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.320C>A (p.Ala107Glu) rs386833934
NM_004646.3(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.3(NPHS1):c.3281_3283delCTG (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.3311+14T>C rs375587420
NM_004646.3(NPHS1):c.3312-23C>T rs755493354
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.3455C>T (p.Thr1152Met) rs143145248
NM_004646.3(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.3(NPHS1):c.3531_3533delTGA (p.Asp1177del) rs887991752
NM_004646.3(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.3(NPHS1):c.3551_3570del (p.Ser1186Leufs)
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.361G>A (p.Glu121Lys) rs1403580615
NM_004646.3(NPHS1):c.3622_3625delGACA (p.Asp1208Hisfs) rs1186290245
NM_004646.3(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
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.444_452del (p.Thr149_Val151del)
NM_004646.3(NPHS1):c.460del (p.Gln154Argfs)
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.528T>C (p.Ser176=) rs539716201
NM_004646.3(NPHS1):c.597G>A (p.Glu199=) rs61731102
NM_004646.3(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.3(NPHS1):c.644T>G (p.Leu215Arg) rs755962215
NM_004646.3(NPHS1):c.658T>G (p.Ser220Ala) rs115333628
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
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)
NM_004646.3(NPHS1):c.822_840+6dup 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.916G>A (p.Val306Met) rs769719915
NM_004646.3(NPHS1):c.925G>A (p.Glu309Lys) rs950655735

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