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: 21
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HGVS dbSNP
NM_153240.5(NPHP3):c.*266G>A rs11708200
NM_153240.5(NPHP3):c.*657C>T rs79224795
NM_153240.5(NPHP3):c.*785G>A rs6774366
NM_153240.5(NPHP3):c.1119-6A>T rs372374369
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.1425T>C (p.Asp475=) rs369725128
NM_153240.5(NPHP3):c.1716C>G (p.Ser572=) rs1060504844
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=) rs150489788
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.354G>A (p.Lys118=) rs769508776
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser) rs113364886
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449

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