ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_153240.5(NPHP3):c.2089-9C>T rs141397228 0.00404
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_153240.5(NPHP3):c.1743+37T>C rs145285316 0.00285
NM_153240.5(NPHP3):c.2693+17A>G rs200046908 0.00212
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.2883+13G>C rs112375565 0.00122
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.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.2769C>T (p.Phe923=) rs116174472 0.00066
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.3500G>A (p.Arg1167His) rs111727307 0.00033
NM_153240.5(NPHP3):c.1629-17C>A rs145056102 0.00024
NM_153240.5(NPHP3):c.2931A>G (p.Leu977=) rs146316936 0.00009
NM_153240.5(NPHP3):c.2172-12C>T rs886038736 0.00006
NM_153240.5(NPHP3):c.394-18C>G rs886038737 0.00004
NM_153240.5(NPHP3):c.1027A>G (p.Ile343Val) rs372145755 0.00003
NM_153240.5(NPHP3):c.1985+4C>T rs752335903 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153240.5(NPHP3):c.823+30C>T rs568393639 0.00001
NM_153240.5(NPHP3):c.921A>G (p.Thr307=) rs368874413 0.00001
NM_153240.5(NPHP3):c.2311-6A>G rs769918347
NM_153240.5(NPHP3):c.670+13C>T rs202228115

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