ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.1743+37T>C rs145285316
NM_153240.5(NPHP3):c.1887+6G>A rs79113972
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281
NM_153240.5(NPHP3):c.1985+4C>T rs752335903
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.5(NPHP3):c.2089-9C>T rs141397228
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226
NM_153240.5(NPHP3):c.2172-12C>T rs886038736
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.2571-7T>C rs62292468
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515
NM_153240.5(NPHP3):c.2693+17A>G rs200046908
NM_153240.5(NPHP3):c.2883+13G>C rs112375565
NM_153240.5(NPHP3):c.3093A>G (p.Glu1031=) rs112300370
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=) rs112386774
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053
NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His) rs111727307
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.5(NPHP3):c.3570+9G>T rs112749193
NM_153240.5(NPHP3):c.3663C>T (p.Ala1221=) rs112144165
NM_153240.5(NPHP3):c.3664T>C (p.Leu1222=) rs142616619
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
NM_153240.5(NPHP3):c.3812+42C>T rs145708952
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153240.5(NPHP3):c.394-18C>G rs886038737
NM_153240.5(NPHP3):c.394-45A>G rs12631786
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
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.45G>T (p.Val15=) rs768083433
NM_153240.5(NPHP3):c.57G>C (p.Thr19=) rs192633696
NM_153240.5(NPHP3):c.670+13C>T rs202228115
NM_153240.5(NPHP3):c.823+30C>T rs568393639
NM_153240.5(NPHP3):c.864T>A (p.Thr288=) rs147932449

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