ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign for Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 287
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His) rs144781228 0.00154
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886 0.00121
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745 0.00068
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_153240.5(NPHP3):c.2884-4C>G rs185913426 0.00034
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226 0.00026
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00020
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787 0.00020
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788 0.00019
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_153240.5(NPHP3):c.3990G>A (p.Arg1330=) rs147332157 0.00016
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694 0.00015
NM_153240.5(NPHP3):c.1183T>G (p.Phe395Val) rs764000635 0.00014
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) rs201015677 0.00013
NM_153240.5(NPHP3):c.2883+16C>T rs376492280 0.00012
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153240.5(NPHP3):c.1744-12C>G rs367785168 0.00010
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp) rs190548695 0.00009
NM_153240.5(NPHP3):c.2884-5C>T rs764010022 0.00008
NM_153240.5(NPHP3):c.3330-19T>C rs372840443 0.00007
NM_153240.5(NPHP3):c.957+16A>C rs368705884 0.00007
NM_153240.5(NPHP3):c.1887+17del rs772091214 0.00006
NM_153240.5(NPHP3):c.2166C>T (p.Ile722=) rs368406864 0.00006
NM_153240.5(NPHP3):c.2172-12C>T rs886038736 0.00006
NM_153240.5(NPHP3):c.2232T>C (p.Thr744=) rs767339363 0.00006
NM_153240.5(NPHP3):c.3570+17A>G rs377589434 0.00006
NM_153240.5(NPHP3):c.2418A>G (p.Leu806=) rs1025642403 0.00005
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153240.5(NPHP3):c.3270T>G (p.Pro1090=) rs139351534 0.00005
NM_153240.5(NPHP3):c.894C>T (p.Asn298=) rs988823074 0.00005
NM_153240.5(NPHP3):c.2169G>A (p.Ala723=) rs563403703 0.00004
NM_153240.5(NPHP3):c.2817G>A (p.Met939Ile) rs760355143 0.00004
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543 0.00004
NM_153240.5(NPHP3):c.1119-12T>C rs753569204 0.00003
NM_153240.5(NPHP3):c.1629-19T>G rs1176486903 0.00003
NM_153240.5(NPHP3):c.1744-7C>G rs758273843 0.00003
NM_153240.5(NPHP3):c.3009T>C (p.Asn1003=) rs372990521 0.00003
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00003
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.1986-7A>G rs373733344 0.00002
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=) rs761833505 0.00002
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr) rs770302939 0.00002
NM_153240.5(NPHP3):c.2171+8G>A rs147825615 0.00002
NM_153240.5(NPHP3):c.2190T>C (p.Asn730=) rs780587933 0.00002
NM_153240.5(NPHP3):c.2985C>T (p.Tyr995=) rs777768843 0.00002
NM_153240.5(NPHP3):c.3429T>G (p.Ala1143=) rs772904943 0.00002
NM_153240.5(NPHP3):c.384C>G (p.Ala128=) rs201425936 0.00002
NM_153240.5(NPHP3):c.671-18A>G rs776019324 0.00002
NM_153240.5(NPHP3):c.978G>A (p.Lys326=) rs759490137 0.00002
NM_153240.5(NPHP3):c.1118+7T>C rs755103165 0.00001
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) rs755094682 0.00001
NM_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 0.00001
NM_153240.5(NPHP3):c.1311A>G (p.Val437=) rs1393593329 0.00001
NM_153240.5(NPHP3):c.1351-6G>A rs758073939 0.00001
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128 0.00001
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 0.00001
NM_153240.5(NPHP3):c.1521G>A (p.Glu507=) rs762044969 0.00001
NM_153240.5(NPHP3):c.1581C>T (p.Leu527=) rs183241346 0.00001
NM_153240.5(NPHP3):c.1618T>C (p.Leu540=) rs1346281529 0.00001
NM_153240.5(NPHP3):c.1620A>G (p.Leu540=) rs772704156 0.00001
NM_153240.5(NPHP3):c.1629-17_1629-13del rs1197764455 0.00001
NM_153240.5(NPHP3):c.1692C>T (p.Pro564=) rs1448083146 0.00001
NM_153240.5(NPHP3):c.1791T>C (p.Ala597=) rs1269919387 0.00001
NM_153240.5(NPHP3):c.1986-10T>C rs1449961171 0.00001
NM_153240.5(NPHP3):c.1986-20T>G rs372668523 0.00001
NM_153240.5(NPHP3):c.1986-8C>T rs780778474 0.00001
NM_153240.5(NPHP3):c.2088+14A>T rs773344647 0.00001
NM_153240.5(NPHP3):c.2109C>T (p.His703=) rs765177103 0.00001
NM_153240.5(NPHP3):c.2172-19C>A rs759217005 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.2310+20T>C rs767427222 0.00001
NM_153240.5(NPHP3):c.2346G>A (p.Val782=) rs200418725 0.00001
NM_153240.5(NPHP3):c.2560T>C (p.Leu854=) rs758928870 0.00001
NM_153240.5(NPHP3):c.2571-12C>G rs886058003 0.00001
NM_153240.5(NPHP3):c.2658T>C (p.Leu886=) rs773079895 0.00001
NM_153240.5(NPHP3):c.2883+8C>G rs373257282 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 0.00001
NM_153240.5(NPHP3):c.2937C>T (p.Pro979=) rs774962213 0.00001
NM_153240.5(NPHP3):c.3036G>A (p.Leu1012=) rs1036061016 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584 0.00001
NM_153240.5(NPHP3):c.3306C>G (p.Leu1102=) rs757542289 0.00001
NM_153240.5(NPHP3):c.3318A>G (p.Gln1106=) rs1161730457 0.00001
NM_153240.5(NPHP3):c.3393C>T (p.His1131=) rs1416876931 0.00001
NM_153240.5(NPHP3):c.3480A>G (p.Arg1160=) rs1393705320 0.00001
NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=) rs761585621 0.00001
NM_153240.5(NPHP3):c.3540G>A (p.Val1180=) rs1939108951 0.00001
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776 0.00001
NM_153240.5(NPHP3):c.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3705C>T (p.His1235=) rs753143081 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 0.00001
NM_153240.5(NPHP3):c.3912A>G (p.Ser1304=) rs114049311 0.00001
NM_153240.5(NPHP3):c.520-12T>C rs763909286 0.00001
NM_153240.5(NPHP3):c.600A>G (p.Leu200=) rs749309370 0.00001
NM_153240.5(NPHP3):c.657T>C (p.Cys219=) rs200533815 0.00001
NM_153240.5(NPHP3):c.671-14C>A rs370887292 0.00001
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544 0.00001
NM_153240.5(NPHP3):c.801A>T (p.Gly267=) rs763333048 0.00001
NM_153240.5(NPHP3):c.823+20A>G rs898519948 0.00001
NM_153240.5(NPHP3):c.876A>G (p.Ser292=) rs777368543 0.00001
NM_153240.5(NPHP3):c.903A>G (p.Arg301=) rs375395871 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.987C>T (p.Cys329=) rs138124482 0.00001
NM_153240.5(NPHP3):c.1026A>G (p.Pro342=)
NM_153240.5(NPHP3):c.1038A>G (p.Glu346=) rs756382033
NM_153240.5(NPHP3):c.1044A>G (p.Gln348=) rs1560014152
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.1118+11A>C rs751629184
NM_153240.5(NPHP3):c.1118+17T>C rs766373582
NM_153240.5(NPHP3):c.1118+18G>A rs2107996221
NM_153240.5(NPHP3):c.1118+8del
NM_153240.5(NPHP3):c.1119-18T>C
NM_153240.5(NPHP3):c.1167A>G (p.Gly389=)
NM_153240.5(NPHP3):c.1221T>C (p.Ser407=)
NM_153240.5(NPHP3):c.1275+10A>G
NM_153240.5(NPHP3):c.1275+12del rs2107990515
NM_153240.5(NPHP3):c.1275+14G>T
NM_153240.5(NPHP3):c.1290A>G (p.Ser430=)
NM_153240.5(NPHP3):c.1350+10C>A
NM_153240.5(NPHP3):c.1350+11A>G rs1159005602
NM_153240.5(NPHP3):c.1351-11T>C rs2107986017
NM_153240.5(NPHP3):c.1351-15G>A rs2107986026
NM_153240.5(NPHP3):c.1441C>T (p.Leu481=)
NM_153240.5(NPHP3):c.1452A>G (p.Ile484Met) rs771804922
NM_153240.5(NPHP3):c.1470A>G (p.Gln490=) rs2107985821
NM_153240.5(NPHP3):c.1515A>G (p.Gly505=) rs1411856886
NM_153240.5(NPHP3):c.1524+7G>T rs760682707
NM_153240.5(NPHP3):c.1525-12T>G
NM_153240.5(NPHP3):c.1525-20A>G
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1533A>G (p.Gln511=) rs368126549
NM_153240.5(NPHP3):c.1566G>A (p.Pro522=)
NM_153240.5(NPHP3):c.15G>A (p.Ser5=) rs2108008379
NM_153240.5(NPHP3):c.1608G>A (p.Lys536=) rs200647158
NM_153240.5(NPHP3):c.1628+19A>C
NM_153240.5(NPHP3):c.1628+9C>A rs1199591337
NM_153240.5(NPHP3):c.1628+9C>T
NM_153240.5(NPHP3):c.1663C>T (p.Leu555=)
NM_153240.5(NPHP3):c.1689G>A (p.Arg563=)
NM_153240.5(NPHP3):c.1707A>G (p.Ser569=)
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=) rs1060504844
NM_153240.5(NPHP3):c.1743+17T>G rs2107981287
NM_153240.5(NPHP3):c.1743+19T>C
NM_153240.5(NPHP3):c.1744-4G>T rs750318426
NM_153240.5(NPHP3):c.1744-8T>C
NM_153240.5(NPHP3):c.1752G>A (p.Gln584=) rs1409547506
NM_153240.5(NPHP3):c.1779A>G (p.Thr593=)
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1887+10T>A
NM_153240.5(NPHP3):c.1887+11C>A
NM_153240.5(NPHP3):c.1923A>G (p.Pro641=)
NM_153240.5(NPHP3):c.1985+18G>A rs754296173
NM_153240.5(NPHP3):c.1989G>A (p.Leu663=) rs1939482136
NM_153240.5(NPHP3):c.2052A>G (p.Glu684=)
NM_153240.5(NPHP3):c.2074T>C (p.Leu692=) rs1939479118
NM_153240.5(NPHP3):c.2089-4G>T
NM_153240.5(NPHP3):c.2089-8T>C
NM_153240.5(NPHP3):c.2098C>T (p.Leu700=)
NM_153240.5(NPHP3):c.2157C>G (p.Gly719=) rs1939463263
NM_153240.5(NPHP3):c.2172-11G>A
NM_153240.5(NPHP3):c.2193A>G (p.Leu731=) rs2107974699
NM_153240.5(NPHP3):c.21C>G (p.Leu7=)
NM_153240.5(NPHP3):c.2238A>G (p.Ser746=) rs2107974643
NM_153240.5(NPHP3):c.2310+10A>G rs1939404058
NM_153240.5(NPHP3):c.2310+17T>A
NM_153240.5(NPHP3):c.2311-12T>G rs1939334269
NM_153240.5(NPHP3):c.2311-13T>G
NM_153240.5(NPHP3):c.2311-14G>A
NM_153240.5(NPHP3):c.2311-6A>C rs769918347
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2311-9T>C
NM_153240.5(NPHP3):c.2361G>C (p.Leu787=)
NM_153240.5(NPHP3):c.2394C>T (p.Phe798=) rs534190640
NM_153240.5(NPHP3):c.2431T>C (p.Leu811=) rs2107971631
NM_153240.5(NPHP3):c.2433G>A (p.Leu811=) rs1277600730
NM_153240.5(NPHP3):c.2439T>A (p.Thr813=) rs2107971620
NM_153240.5(NPHP3):c.2475+19T>A
NM_153240.5(NPHP3):c.2476-14C>T
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) rs866796047
NM_153240.5(NPHP3):c.2562G>A (p.Leu854=)
NM_153240.5(NPHP3):c.2570+10A>G rs1576665035
NM_153240.5(NPHP3):c.2570+18G>A
NM_153240.5(NPHP3):c.2571-14C>G
NM_153240.5(NPHP3):c.2577C>T (p.Asp859=)
NM_153240.5(NPHP3):c.2610G>T (p.Pro870=)
NM_153240.5(NPHP3):c.2667C>A (p.Leu889=)
NM_153240.5(NPHP3):c.2721T>C (p.Tyr907=) rs1486007292
NM_153240.5(NPHP3):c.2760A>G (p.Thr920=) rs2107968069
NM_153240.5(NPHP3):c.2799C>T (p.Cys933=)
NM_153240.5(NPHP3):c.2808G>A (p.Glu936=)
NM_153240.5(NPHP3):c.2823C>T (p.Cys941=)
NM_153240.5(NPHP3):c.2868A>G (p.Leu956=)
NM_153240.5(NPHP3):c.2871C>T (p.Gly957=) rs2107967950
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.2884-6C>T
NM_153240.5(NPHP3):c.2884-8C>A rs757300023
NM_153240.5(NPHP3):c.2884-9T>C
NM_153240.5(NPHP3):c.2928T>G (p.Ala976=) rs2107967702
NM_153240.5(NPHP3):c.2970A>G (p.Gln990=) rs2107967635
NM_153240.5(NPHP3):c.3027A>G (p.Lys1009=)
NM_153240.5(NPHP3):c.3033G>A (p.Ala1011=)
NM_153240.5(NPHP3):c.3048A>G (p.Glu1016=) rs1170253406
NM_153240.5(NPHP3):c.3125+19G>A rs2107967402
NM_153240.5(NPHP3):c.3126-13A>T
NM_153240.5(NPHP3):c.3126-17T>C rs186041429
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3126-7T>G rs1262764918
NM_153240.5(NPHP3):c.3180T>G (p.Ala1060=) rs2107965871
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134
NM_153240.5(NPHP3):c.3204C>T (p.Tyr1068=)
NM_153240.5(NPHP3):c.3213C>T (p.Ala1071=)
NM_153240.5(NPHP3):c.3279T>G (p.Ala1093=)
NM_153240.5(NPHP3):c.328T>C (p.Leu110=)
NM_153240.5(NPHP3):c.3297G>A (p.Leu1099=) rs1560000891
NM_153240.5(NPHP3):c.3330-18T>C rs1476177804
NM_153240.5(NPHP3):c.339C>G (p.Gly113=)
NM_153240.5(NPHP3):c.3444G>A (p.Lys1148=)
NM_153240.5(NPHP3):c.3531A>G (p.Ala1177=)
NM_153240.5(NPHP3):c.3570+18T>C rs2107963185
NM_153240.5(NPHP3):c.3571-10del
NM_153240.5(NPHP3):c.3571-10dup
NM_153240.5(NPHP3):c.3571-14C>T
NM_153240.5(NPHP3):c.3571-15A>T
NM_153240.5(NPHP3):c.3571-7T>G
NM_153240.5(NPHP3):c.3604T>C (p.Leu1202=)
NM_153240.5(NPHP3):c.3612T>A (p.Val1204=)
NM_153240.5(NPHP3):c.3642G>A (p.Lys1214=)
NM_153240.5(NPHP3):c.3696+12T>A
NM_153240.5(NPHP3):c.3696+14T>G
NM_153240.5(NPHP3):c.3697-11T>C
NM_153240.5(NPHP3):c.3697-13T>G rs1939067140
NM_153240.5(NPHP3):c.3697-16C>A rs2107961469
NM_153240.5(NPHP3):c.3807G>A (p.Val1269=)
NM_153240.5(NPHP3):c.3812+16_3812+17del
NM_153240.5(NPHP3):c.3813-18_3813-17del
NM_153240.5(NPHP3):c.3846A>G (p.Glu1282=)
NM_153240.5(NPHP3):c.3891C>T (p.Leu1297=) rs1436695205
NM_153240.5(NPHP3):c.3892T>C (p.Leu1298=)
NM_153240.5(NPHP3):c.393+16G>T
NM_153240.5(NPHP3):c.393+19G>A
NM_153240.5(NPHP3):c.393+20C>G
NM_153240.5(NPHP3):c.393+7C>T
NM_153240.5(NPHP3):c.394-17_394-15del rs766909353
NM_153240.5(NPHP3):c.394-20A>G
NM_153240.5(NPHP3):c.394-35_394-20del rs771153447
NM_153240.5(NPHP3):c.396A>T (p.Ala132=)
NM_153240.5(NPHP3):c.402A>G (p.Gln134=) rs2108003851
NM_153240.5(NPHP3):c.474A>G (p.Ala158=) rs758512712
NM_153240.5(NPHP3):c.519+11del rs2108003644
NM_153240.5(NPHP3):c.519+13C>A
NM_153240.5(NPHP3):c.519+13C>T
NM_153240.5(NPHP3):c.520-13A>G
NM_153240.5(NPHP3):c.531G>A (p.Glu177=)
NM_153240.5(NPHP3):c.561G>A (p.Leu187=) rs1194475374
NM_153240.5(NPHP3):c.576G>A (p.Glu192=)
NM_153240.5(NPHP3):c.577T>C (p.Leu193=)
NM_153240.5(NPHP3):c.627T>C (p.Asp209=) rs2108002787
NM_153240.5(NPHP3):c.633G>A (p.Gly211=)
NM_153240.5(NPHP3):c.666C>T (p.Val222=) rs2108002721
NM_153240.5(NPHP3):c.670+10_670+11insGG
NM_153240.5(NPHP3):c.670+13C>A
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.670+14del
NM_153240.5(NPHP3):c.670+19dup
NM_153240.5(NPHP3):c.670+9A>G rs2108002703
NM_153240.5(NPHP3):c.777C>T (p.Ala259=) rs1384613347
NM_153240.5(NPHP3):c.819T>C (p.Asn273=) rs2108000058
NM_153240.5(NPHP3):c.824-15A>T
NM_153240.5(NPHP3):c.824-8A>G
NM_153240.5(NPHP3):c.957+14T>G
NM_153240.5(NPHP3):c.957+16_957+24del
NM_153240.5(NPHP3):c.957+18T>C
NM_153240.5(NPHP3):c.958-4T>C rs2107996443
NM_153240.5(NPHP3):c.993A>G (p.Thr331=) rs1939961664

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