ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.*266G>A rs11708200 0.03396
NM_153240.5(NPHP3):c.2571-7T>C rs62292468 0.02974
NM_153240.5(NPHP3):c.*785G>A rs6774366 0.02518
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449 0.01825
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254 0.01496
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
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.3570+9G>T rs112749193 0.00121
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370 0.00120
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165 0.00099
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_153240.5(NPHP3):c.3812+16A>G rs376029054 0.00019
NM_153240.5(NPHP3):c.3126-8T>G rs201592109 0.00015
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.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153240.5(NPHP3):c.1887+17del rs772091214 0.00006
NM_153240.5(NPHP3):c.3126-4T>A rs746873186 0.00005
NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) rs766231228 0.00004
NM_153240.5(NPHP3):c.1308A>G (p.Gly436=) rs777911324 0.00002
NM_153240.5(NPHP3):c.3813-10T>C rs372263313 0.00002
NM_153240.5(NPHP3):c.1245T>G (p.Val415=) rs772276779 0.00001
NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) rs770200607 0.00001
NM_153240.5(NPHP3):c.2259C>T (p.His753=) rs765940696 0.00001
NM_153240.5(NPHP3):c.2884-8C>T rs757300023 0.00001
NM_153240.5(NPHP3):c.3135A>G (p.Gln1045=) rs745568685 0.00001
NM_153240.5(NPHP3):c.3696+20C>T rs773940041 0.00001
NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) rs777264064 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.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) rs1215885580
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2884-4C>A rs185913426
NM_153240.5(NPHP3):c.3126-17T>G rs186041429
NM_153240.5(NPHP3):c.3201+11A>G rs1423098134

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