ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 334
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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.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_004646.4(NPHS1):c.2072-6C>T rs200253809 0.00191
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_004646.4(NPHS1):c.3520C>T (p.His1174Tyr) rs115489112 0.00161
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
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.3109+3G>T rs199888357 0.00101
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.1012+30C>T rs199659985 0.00092
NM_004646.4(NPHS1):c.1151T>C (p.Met384Thr) rs114112112 0.00091
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.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144 0.00051
NM_004646.4(NPHS1):c.646G>C (p.Val216Leu) rs34673364 0.00050
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_004646.4(NPHS1):c.1620G>C (p.Ala540=) rs375861433 0.00042
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_004646.4(NPHS1):c.3110-5C>T rs190769116 0.00041
NM_004646.4(NPHS1):c.3173C>T (p.Ser1058Leu) rs201503587 0.00031
NM_004646.4(NPHS1):c.2405G>A (p.Arg802Gln) rs114203578 0.00028
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_004646.4(NPHS1):c.528T>C (p.Ser176=) rs539716201 0.00026
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.766C>T (p.Arg256Trp) rs386833960 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.1104G>A (p.Pro368=) rs143178785 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.1289A>G (p.Lys430Arg) rs368523939 0.00014
NM_004646.4(NPHS1):c.3151A>G (p.Thr1051Ala) rs140673499 0.00014
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.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.3702C>T (p.Phe1234=) rs141375888 0.00013
NM_004646.4(NPHS1):c.*865T>C rs904828636 0.00012
NM_004646.4(NPHS1):c.1486C>A (p.Arg496Ser) rs373264146 0.00011
NM_004646.4(NPHS1):c.3275G>A (p.Arg1092His) rs144203682 0.00011
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 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.2335-1G>A rs150038620 0.00009
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.860C>G (p.Thr287Arg) rs1333165836 0.00008
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.1170+9G>A rs531263446 0.00006
NM_004646.4(NPHS1):c.1725G>T (p.Pro575=) rs140859903 0.00006
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.3100A>G (p.Thr1034Ala) rs762614253 0.00005
NM_004646.4(NPHS1):c.973G>T (p.Ala325Ser) rs376401690 0.00005
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.1822G>A (p.Val608Ile) rs367976914 0.00004
NM_004646.4(NPHS1):c.2334+9C>T rs756158801 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175 0.00004
NM_004646.4(NPHS1):c.2961T>C (p.Tyr987=) rs201263480 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=) rs201738778 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.609-10C>T rs763508503 0.00004
NM_004646.4(NPHS1):c.887C>T (p.Ala296Val) rs200621047 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.1647G>C (p.Thr549=) rs371484897 0.00003
NM_004646.4(NPHS1):c.2705G>A (p.Ser902Asn) rs749246924 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.2970C>T (p.Val990=) rs778497725 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.794G>C (p.Cys265Ser) rs748287435 0.00003
NM_004646.4(NPHS1):c.925G>A (p.Glu309Lys) rs950655735 0.00003
NM_004646.4(NPHS1):c.*958G>T rs886054344 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.1931-34A>G rs1040003208 0.00002
NM_004646.4(NPHS1):c.2305C>T (p.Leu769Phe) rs747892169 0.00002
NM_004646.4(NPHS1):c.2344G>A (p.Glu782Lys) rs549487912 0.00002
NM_004646.4(NPHS1):c.2438C>T (p.Ala813Val) rs541575466 0.00002
NM_004646.4(NPHS1):c.2516A>T (p.Gln839Leu) rs1442536181 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_004646.4(NPHS1):c.2761A>G (p.Thr921Ala) rs370844834 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.822_840+6dup rs779725493 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.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.1196T>C (p.Met399Thr) rs781420585 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 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.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1598T>C (p.Leu533Pro) rs886054351 0.00001
NM_004646.4(NPHS1):c.1727T>C (p.Val576Ala) rs757670920 0.00001
NM_004646.4(NPHS1):c.1850A>G (p.His617Arg) rs764058957 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.2026C>T (p.Pro676Ser) rs746189747 0.00001
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572 0.00001
NM_004646.4(NPHS1):c.2285C>T (p.Thr762Ile) rs944539025 0.00001
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met) rs267606918 0.00001
NM_004646.4(NPHS1):c.2507-14C>T rs777015846 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2686C>G (p.Gln896Glu) rs771594710 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.2905C>T (p.Leu969=) rs368639377 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.3160C>T (p.Pro1054Ser) rs772424085 0.00001
NM_004646.4(NPHS1):c.3186G>C (p.Leu1062=) rs1972888608 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004646.4(NPHS1):c.3247G>A (p.Gly1083Arg) rs768707154 0.00001
NM_004646.4(NPHS1):c.3312-23C>T rs755493354 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.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.644T>G (p.Leu215Arg) rs755962215 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.938C>T (p.Ala313Val) rs755752316 0.00001
NC_000019.9:g.(?_36317416)_(36317567_?)dup
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.1009A>G (p.Thr337Ala)
NM_004646.4(NPHS1):c.1021_1023del (p.Ser341del) rs1555763370
NM_004646.4(NPHS1):c.1022G>C (p.Ser341Thr) rs976105039
NM_004646.4(NPHS1):c.1039G>A (p.Gly347Arg) rs1555763367
NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu) rs386833862
NM_004646.4(NPHS1):c.1043C>T (p.Ser348Phe)
NM_004646.4(NPHS1):c.1108G>A (p.Val370Ile)
NM_004646.4(NPHS1):c.1108G>T (p.Val370Phe)
NM_004646.4(NPHS1):c.1131_1133del (p.Trp378del) rs1555763317
NM_004646.4(NPHS1):c.1154A>G (p.Glu385Gly)
NM_004646.4(NPHS1):c.1168G>T (p.Asp390Tyr) rs1336745494
NM_004646.4(NPHS1):c.1189A>C (p.Ile397Leu) rs1973175925
NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala) rs1973174583
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)
NM_004646.4(NPHS1):c.1370C>T (p.Ala457Val)
NM_004646.4(NPHS1):c.1440+2T>C rs1568455470
NM_004646.4(NPHS1):c.1441G>T (p.Asp481Tyr)
NM_004646.4(NPHS1):c.1469_1486dup (p.Leu490_Arg495dup) rs1973137901
NM_004646.4(NPHS1):c.1504G>A (p.Val502Met)
NM_004646.4(NPHS1):c.1536GCTGGT[1] (p.513LV[1]) rs1555762721
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.1576T>C (p.Phe526Leu)
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.1726G>T (p.Val576Phe) rs1973129887
NM_004646.4(NPHS1):c.1734G>A (p.Leu578=) rs1973129633
NM_004646.4(NPHS1):c.1744A>G (p.Lys582Glu)
NM_004646.4(NPHS1):c.1758-10G>A rs2146823474
NM_004646.4(NPHS1):c.1790C>T (p.Ala597Val) rs548304892
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.1861G>T (p.Val621Leu)
NM_004646.4(NPHS1):c.1873G>T (p.Ala625Ser) rs1973122430
NM_004646.4(NPHS1):c.1893C>T (p.Arg631=) rs1973121750
NM_004646.4(NPHS1):c.1897A>G (p.Thr633Ala)
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
NM_004646.4(NPHS1):c.1931-16G>A rs1392236567
NM_004646.4(NPHS1):c.1989G>A (p.Glu663=) rs909573287
NM_004646.4(NPHS1):c.2020C>A (p.Pro674Thr) rs2146822238
NM_004646.4(NPHS1):c.2024C>T (p.Ala675Val)
NM_004646.4(NPHS1):c.2029G>A (p.Glu677Lys)
NM_004646.4(NPHS1):c.2053G>T (p.Gly685Cys)
NM_004646.4(NPHS1):c.2072-5C>T rs1973103431
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2072C>A (p.Ala691Glu) rs886054349
NM_004646.4(NPHS1):c.2150A>G (p.Tyr717Cys)
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.2210A>C (p.His737Pro)
NM_004646.4(NPHS1):c.2257G>A (p.Val753Ile) rs753894951
NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr) rs775313529
NM_004646.4(NPHS1):c.2315T>C (p.Met772Thr) rs1973089245
NM_004646.4(NPHS1):c.2334+9C>A rs756158801
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2336G>T (p.Gly779Val) rs2146819926
NM_004646.4(NPHS1):c.2346GGA[1] (p.Glu783del) rs1568453391
NM_004646.4(NPHS1):c.2402T>A (p.Leu801Gln) rs2146819820
NM_004646.4(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.4(NPHS1):c.2436C>G (p.Gly812=) rs768441489
NM_004646.4(NPHS1):c.2437G>A (p.Ala813Thr)
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.4(NPHS1):c.2452G>A (p.Val818Met)
NM_004646.4(NPHS1):c.2459A>G (p.Asn820Ser) rs2146819740
NM_004646.4(NPHS1):c.2497G>T (p.Val833Phe)
NM_004646.4(NPHS1):c.2504G>C (p.Arg835Thr) rs1973073113
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2507-13C>T rs536518140
NM_004646.4(NPHS1):c.2512C>T (p.Pro838Ser)
NM_004646.4(NPHS1):c.2517G>A (p.Gln839=)
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.2542A>G (p.Lys848Glu)
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
NM_004646.4(NPHS1):c.2588G>T (p.Cys863Phe) rs1568453194
NM_004646.4(NPHS1):c.2611A>G (p.Ile871Val)
NM_004646.4(NPHS1):c.2635G>A (p.Gly879Arg)
NM_004646.4(NPHS1):c.2636G>A (p.Gly879Glu)
NM_004646.4(NPHS1):c.2637G>T (p.Gly879=) rs1431580668
NM_004646.4(NPHS1):c.2651T>C (p.Leu884Pro)
NM_004646.4(NPHS1):c.2654A>T (p.Gln885Leu) rs886054348
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2679A>G (p.Thr893=) rs1568453068
NM_004646.4(NPHS1):c.2708T>C (p.Leu903Pro) rs755991857
NM_004646.4(NPHS1):c.2719G>A (p.Ala907Thr) rs1555761935
NM_004646.4(NPHS1):c.2725G>A (p.Val909Met)
NM_004646.4(NPHS1):c.2746G>A (p.Ala916Thr)
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.2758T>A (p.Cys920Ser) rs1568453007
NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)
NM_004646.4(NPHS1):c.2765C>A (p.Ala922Asp) rs2146818958
NM_004646.4(NPHS1):c.2773G>T (p.Ala925Ser)
NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)
NM_004646.4(NPHS1):c.2816G>A (p.Ser939Asn)
NM_004646.4(NPHS1):c.2819G>A (p.Arg940His)
NM_004646.4(NPHS1):c.2826C>A (p.Asp942Glu)
NM_004646.4(NPHS1):c.2899G>T (p.Gly967Trp) rs1973023933
NM_004646.4(NPHS1):c.2916G>A (p.Arg972=) rs374762054
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.295G>A (p.Glu99Lys)
NM_004646.4(NPHS1):c.2971G>A (p.Val991Ile)
NM_004646.4(NPHS1):c.298G>T (p.Ala100Ser) rs1379397351
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3025T>C (p.Tyr1009His)
NM_004646.4(NPHS1):c.3058G>A (p.Gly1020Arg)
NM_004646.4(NPHS1):c.3108A>C (p.Pro1036=)
NM_004646.4(NPHS1):c.3111T>G (p.Gly1037=) rs765621356
NM_004646.4(NPHS1):c.3166+14C>A rs886054347
NM_004646.4(NPHS1):c.3181C>T (p.Pro1061Ser)
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile) rs1972887955
NM_004646.4(NPHS1):c.3238T>A (p.Cys1080Ser)
NM_004646.4(NPHS1):c.3238T>G (p.Cys1080Gly)
NM_004646.4(NPHS1):c.3244G>A (p.Gly1082Arg)
NM_004646.4(NPHS1):c.3245G>T (p.Gly1082Val) rs1440052631
NM_004646.4(NPHS1):c.325T>C (p.Tyr109His) rs747849728
NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)
NM_004646.4(NPHS1):c.3281_3283del (p.Ala1094del) rs778137714
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3286G>A (p.Gly1096Ser) rs2146807926
NM_004646.4(NPHS1):c.3287-11G>A rs1175331248
NM_004646.4(NPHS1):c.3302C>A (p.Thr1101Lys)
NM_004646.4(NPHS1):c.3333G>A (p.Arg1111=) rs1972879372
NM_004646.4(NPHS1):c.3364G>C (p.Glu1122Gln) rs548792892
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro) rs786205518
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3439C>A (p.Pro1147Thr)
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004646.4(NPHS1):c.3464A>G (p.Glu1155Gly)
NM_004646.4(NPHS1):c.3481+1G>A
NM_004646.4(NPHS1):c.3481G>A (p.Gly1161Ser)
NM_004646.4(NPHS1):c.3482-3C>G
NM_004646.4(NPHS1):c.3526T>G (p.Tyr1176Asp)
NM_004646.4(NPHS1):c.3528TGA[1] (p.Asp1177del) rs887991752
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3544_3545dup (p.Tyr1183fs)
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3569G>A (p.Gly1190Glu)
NM_004646.4(NPHS1):c.3594+2T>C
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.3643G>A (p.Gly1215Arg) rs901965982
NM_004646.4(NPHS1):c.3665G>A (p.Gly1222Glu)
NM_004646.4(NPHS1):c.3679C>G (p.Leu1227Val)
NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)
NM_004646.4(NPHS1):c.3712G>T (p.Gly1238Ter) rs1555758142
NM_004646.4(NPHS1):c.3716A>T (p.His1239Leu) rs199961311
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
NM_004646.4(NPHS1):c.396G>C (p.Leu132=) rs567149548
NM_004646.4(NPHS1):c.404C>A (p.Pro135His) rs2146831313
NM_004646.4(NPHS1):c.407A>G (p.Lys136Arg) rs561948671
NM_004646.4(NPHS1):c.422C>A (p.Thr141Asn)
NM_004646.4(NPHS1):c.444_452del (p.Thr149_Val151del) rs1568457279
NM_004646.4(NPHS1):c.451G>A (p.Val151Ile)
NM_004646.4(NPHS1):c.460del (p.Gln154fs) rs1568457270
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.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.528T>G (p.Ser176Arg)
NM_004646.4(NPHS1):c.545A>C (p.Asp182Ala) rs2146830080
NM_004646.4(NPHS1):c.613A>T (p.Thr205Ser) rs1338171450
NM_004646.4(NPHS1):c.620G>A (p.Arg207Gln)
NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.4(NPHS1):c.665C>T (p.Pro222Leu)
NM_004646.4(NPHS1):c.673G>C (p.Glu225Gln)
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.726C>T (p.Pro242=) rs886054352
NM_004646.4(NPHS1):c.760C>T (p.His254Tyr)
NM_004646.4(NPHS1):c.767G>A (p.Arg256Gln)
NM_004646.4(NPHS1):c.772G>T (p.Gly258Ter) rs1568456335
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln) rs34982899
NM_004646.4(NPHS1):c.791C>T (p.Pro264Leu)
NM_004646.4(NPHS1):c.796G>A (p.Val266Met)
NM_004646.4(NPHS1):c.808G>C (p.Gly270Arg)
NM_004646.4(NPHS1):c.888G>T (p.Ala296=)
NM_004646.4(NPHS1):c.896G>A (p.Arg299His) rs755582721
NM_004646.4(NPHS1):c.896G>C (p.Arg299Pro) rs755582721
NM_004646.4(NPHS1):c.932A>G (p.His311Arg)
NM_004646.4(NPHS1):c.960C>A (p.His320Gln)

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