ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_153240.5(NPHP3):c.1038A>G (p.Glu346=) rs756382033
NM_153240.5(NPHP3):c.1082C>G (p.Ser361Cys) rs146250226
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.118C>T (p.Leu40=) rs374281831
NM_153240.5(NPHP3):c.138C>T (p.Arg46=) rs1576691697
NM_153240.5(NPHP3):c.141A>T (p.Arg47=) rs774866337
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.1548A>G (p.Leu516=) rs1453032510
NM_153240.5(NPHP3):c.156A>C (p.Ala52=) rs913198504
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=) rs1060504844
NM_153240.5(NPHP3):c.171C>A (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745
NM_153240.5(NPHP3):c.2487A>C (p.Thr829=) rs866796047
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2570+10A>G rs1576665035
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788
NM_153240.5(NPHP3):c.2884-4C>G rs185913426
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685
NM_153240.5(NPHP3):c.3221G>A (p.Arg1074His) rs144781228
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584
NM_153240.5(NPHP3):c.3306C>G (p.Leu1102=) rs757542289
NM_153240.5(NPHP3):c.3321T>C (p.Asn1107=) rs1576661719
NM_153240.5(NPHP3):c.3432A>G (p.Leu1144=) rs764978219
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776
NM_153240.5(NPHP3):c.3705C>T (p.His1235=) rs753143081
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951
NM_153240.5(NPHP3):c.600A>G (p.Leu200=) rs749309370
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694
NM_153240.5(NPHP3):c.684A>G (p.Gln228=) rs1369748544
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413

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