ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.1276-117del rs200243213 0.02515
NM_153240.5(NPHP3):c.1985+268C>T rs146400879 0.01641
NM_153240.5(NPHP3):c.958-100T>A rs142676203 0.01630
NM_153240.5(NPHP3):c.1119-246A>G rs6808655 0.01572
NM_153240.5(NPHP3):c.3125+189A>G rs116435384 0.01500
NM_153240.5(NPHP3):c.3126-276A>G rs112490511 0.01464
NM_153240.5(NPHP3):c.394-162A>G rs115177380 0.01049
NM_153240.5(NPHP3):c.671-144G>A rs113913792 0.00983
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.2476-262T>C rs115958195 0.00845
NM_153240.5(NPHP3):c.1525-211A>G rs11925789 0.00815
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_153240.5(NPHP3):c.823+240T>A rs112706691 0.00710
NM_153240.5(NPHP3):c.2693+115A>G rs115547293 0.00701
NM_153240.5(NPHP3):c.1628+116A>T rs77904309 0.00694
NM_153240.5(NPHP3):c.2693+130A>G rs114883280 0.00665
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_153240.5(NPHP3):c.*759G>A rs116338839 0.00632
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_153240.5(NPHP3):c.*815G>A rs141464909 0.00625
NM_153240.5(NPHP3):c.3570+181T>C rs115163664 0.00580
NM_153240.5(NPHP3):c.958-84G>A rs113466095 0.00567
NM_153240.5(NPHP3):c.2475+280A>G rs80257489 0.00505
NM_153240.5(NPHP3):c.671-270C>T rs111837543 0.00490
NM_153240.5(NPHP3):c.2475+309A>G rs114968439 0.00438
NM_153240.5(NPHP3):c.2693+233A>G rs148943799 0.00432
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.520-10C>G rs200144727 0.00362
NM_153240.5(NPHP3):c.3202-100T>C rs188942737 0.00354
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_153240.5(NPHP3):c.1887+176C>T rs150621470 0.00331
NM_153240.5(NPHP3):c.393+127C>T rs140110227 0.00328
NM_153240.5(NPHP3):c.2883+60T>C rs190629977 0.00304
NM_153240.5(NPHP3):c.2172-65del rs138214501 0.00273
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.449C>T (p.Ala150Val) rs142663818 0.00142
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774 0.00121
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886 0.00121
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619 0.00107
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745 0.00068
NM_153240.5(NPHP3):c.2769C>T (p.Phe923=) rs116174472 0.00066
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.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00014
NM_153240.5(NPHP3):c.-49G>A rs28460105 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_153240.5(NPHP3):c.519+36A>G rs201559488 0.00008
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_153240.5(NPHP3):c.1714T>G (p.Ser572Ala) rs781274734 0.00002
NM_153240.5(NPHP3):c.1514G>A (p.Gly505Glu) rs368008794 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.2937C>T (p.Pro979=) rs774962213 0.00001
NM_153240.5(NPHP3):c.3432A>G (p.Leu1144=) rs764978219 0.00001
NM_153240.5(NPHP3):c.*673C>G
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
NM_153240.5(NPHP3):c.1230A>G (p.Gln410=)
NM_153240.5(NPHP3):c.1276-283A>G rs149755457
NM_153240.5(NPHP3):c.1351-259A>G rs145204463
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1548A>G (p.Leu516=) rs1453032510
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.2310+27del
NM_153240.5(NPHP3):c.3321T>C (p.Asn1107=) rs1576661719
NM_153240.5(NPHP3):c.3571-73_3571-70del rs201862851
NM_153240.5(NPHP3):c.393+200G>T rs371795990
NM_153240.5(NPHP3):c.394-89AT[6] rs10590809
NM_153240.5(NPHP3):c.824-125A>T rs115124403

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