ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.*529C>T rs148755697 0.02405
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_004646.4(NPHS1):c.1758-11C>G rs145554982 0.00802
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_004646.4(NPHS1):c.1908C>T (p.Ser636=) rs34761059 0.00420
NM_004646.4(NPHS1):c.3598C>T (p.Pro1200Ser) rs35240811 0.00405
NM_004646.4(NPHS1):c.1170+8G>A rs140808195 0.00400
NM_004646.4(NPHS1):c.1926A>G (p.Val642=) rs114728208 0.00397
NM_004646.4(NPHS1):c.1110T>C (p.Val370=) rs116459838 0.00394
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_004646.4(NPHS1):c.*287C>T rs151204365 0.00305
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr) rs115489112 0.00161
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00138
NM_004646.4(NPHS1):c.*1020C>T rs564256430 0.00133
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_004646.4(NPHS1):c.597G>A (p.Glu199=) rs61731102 0.00101
NM_004646.4(NPHS1):c.*751C>T rs549430502 0.00099
NM_004646.4(NPHS1):c.*1111G>T rs777800161 0.00086
NM_004646.4(NPHS1):c.*609G>A rs144206206 0.00074
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu) rs201503587 0.00031
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.*888A>G rs745654494 0.00021
NM_004646.4(NPHS1):c.1790C>A (p.Ala597Asp) rs548304892 0.00019
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.*757T>C rs552731597 0.00015
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_004646.4(NPHS1):c.3419G>A (p.Arg1140His) rs369787477 0.00015
NM_004646.4(NPHS1):c.733A>C (p.Ile245Leu) rs370046047 0.00014
NM_004646.4(NPHS1):c.*760T>C rs531569980 0.00013
NM_004646.4(NPHS1):c.*865T>C rs904828636 0.00012
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.*250G>A rs117894015 0.00010
NM_004646.4(NPHS1):c.492C>T (p.Asp164=) rs147569168 0.00010
NM_004646.4(NPHS1):c.3455C>T (p.Thr1152Met) rs143145248 0.00009
NM_004646.4(NPHS1):c.888G>A (p.Ala296=) rs531224038 0.00009
NM_004646.4(NPHS1):c.1315+7C>T rs370645778 0.00008
NM_004646.4(NPHS1):c.3130G>A (p.Glu1044Lys) rs370387270 0.00008
NM_004646.4(NPHS1):c.3545C>T (p.Thr1182Met) rs143003940 0.00008
NM_004646.4(NPHS1):c.2469G>A (p.Ala823=) rs371646734 0.00006
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.3311+14T>C rs375587420 0.00006
NM_004646.4(NPHS1):c.3027C>T (p.Tyr1009=) rs762184939 0.00005
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=) rs201263480 0.00004
NM_004646.4(NPHS1):c.3388-14C>T rs371907999 0.00004
NM_004646.4(NPHS1):c.3687C>T (p.Pro1229=) rs116744687 0.00004
NM_004646.4(NPHS1):c.*483G>A rs199649890 0.00003
NM_004646.4(NPHS1):c.1378C>T (p.Arg460Trp) rs749319334 0.00003
NM_004646.4(NPHS1):c.2705G>A (p.Ser902Asn) rs749246924 0.00003
NM_004646.4(NPHS1):c.3206T>C (p.Leu1069Pro) rs756273676 0.00003
NM_004646.4(NPHS1):c.428A>T (p.Glu143Val) rs781117481 0.00003
NM_004646.4(NPHS1):c.*958G>T rs886054344 0.00002
NM_004646.4(NPHS1):c.2516A>T (p.Gln839Leu) rs1442536181 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.485C>G (p.Ser162Cys) rs376172729 0.00002
NM_004646.4(NPHS1):c.*1021G>A rs536792618 0.00001
NM_004646.4(NPHS1):c.*419C>T rs1028142337 0.00001
NM_004646.4(NPHS1):c.*765C>T rs1342655151 0.00001
NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr) rs781420585 0.00001
NM_004646.4(NPHS1):c.1297C>T (p.Leu433Phe) rs730880173 0.00001
NM_004646.4(NPHS1):c.1342G>C (p.Gly448Arg) rs1402815412 0.00001
NM_004646.4(NPHS1):c.1440+11C>T rs750251097 0.00001
NM_004646.4(NPHS1):c.1598T>C (p.Leu533Pro) rs886054351 0.00001
NM_004646.4(NPHS1):c.1871G>T (p.Arg624Leu) rs1261220304 0.00001
NM_004646.4(NPHS1):c.1899C>T (p.Thr633=) rs748680209 0.00001
NM_004646.4(NPHS1):c.2285C>T (p.Thr762Ile) rs944539025 0.00001
NM_004646.4(NPHS1):c.2507-14C>T rs777015846 0.00001
NM_004646.4(NPHS1):c.2686C>G (p.Gln896Glu) rs771594710 0.00001
NM_004646.4(NPHS1):c.2905C>T (p.Leu969=) rs368639377 0.00001
NM_004646.4(NPHS1):c.3337G>A (p.Glu1113Lys) rs760440966 0.00001
NM_004646.4(NPHS1):c.3667G>A (p.Asp1223Asn) rs1350146301 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004646.4(NPHS1):c.916G>A (p.Val306Met) rs769719915 0.00001
NM_004646.4(NPHS1):c.*1040C>T rs181405524
NM_004646.4(NPHS1):c.*272G>A rs550845716
NM_004646.4(NPHS1):c.*272G>T rs550845716
NM_004646.4(NPHS1):c.*488T>C rs886054346
NM_004646.4(NPHS1):c.*759A>T rs886054345
NM_004646.4(NPHS1):c.*82G>T rs569295487
NM_004646.4(NPHS1):c.*962G>A rs1972790629
NM_004646.4(NPHS1):c.1440+2T>C rs1568455470
NM_004646.4(NPHS1):c.1799A>G (p.Lys600Arg) rs566516658
NM_004646.4(NPHS1):c.1861G>A (p.Val621Met) rs886054350
NM_004646.4(NPHS1):c.1989G>A (p.Glu663=) rs909573287
NM_004646.4(NPHS1):c.2072C>A (p.Ala691Glu) rs886054349
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro) rs760911714
NM_004646.4(NPHS1):c.2201T>G (p.Leu734Arg) rs781209508
NM_004646.4(NPHS1):c.2334+9C>A rs756158801
NM_004646.4(NPHS1):c.2436C>G (p.Gly812=) rs768441489
NM_004646.4(NPHS1):c.2504G>C (p.Arg835Thr) rs1973073113
NM_004646.4(NPHS1):c.2507-13C>T rs536518140
NM_004646.4(NPHS1):c.2654A>T (p.Gln885Leu) rs886054348
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.298G>T (p.Ala100Ser) rs1379397351
NM_004646.4(NPHS1):c.3166+14C>A rs886054347
NM_004646.4(NPHS1):c.3364G>C (p.Glu1122Gln) rs548792892
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3716A>T (p.His1239Leu) rs199961311
NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg) rs561948671
NM_004646.4(NPHS1):c.475A>T (p.Asn159Tyr) rs1973238090
NM_004646.4(NPHS1):c.505C>A (p.Pro169Thr) rs886054353
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser) rs1338171450
NM_004646.4(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335

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