ClinVar Miner

List of variants in gene NPHP1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_001128178.3(NPHP1):c.329+76C>T rs111454868 0.01491
NM_001128178.3(NPHP1):c.1762-96C>T rs79332992 0.01468
NM_001128178.3(NPHP1):c.772-118C>T rs78967435 0.01466
NM_001128178.3(NPHP1):c.859+34A>C rs79943015 0.01461
NM_001128178.3(NPHP1):c.1269+335T>C rs17842684 0.01297
NM_001128178.3(NPHP1):c.1269+170G>A rs17842682 0.01141
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001128178.3(NPHP1):c.1352+130T>C rs17842685 0.01138
NM_001128178.3(NPHP1):c.860-285A>C rs17842677 0.01138
NM_001128178.3(NPHP1):c.329+88T>G rs17842672 0.01136
NM_001128178.3(NPHP1):c.205-145A>G rs112623366 0.01133
NM_001128178.3(NPHP1):c.329+139G>T rs113684207 0.01071
NM_001128178.3(NPHP1):c.772-17G>A rs146343637 0.00862
NM_001128178.3(NPHP1):c.1353-58C>T rs1509418 0.00585
NM_001128178.3(NPHP1):c.771+313C>T rs146460084 0.00581
NM_001128178.3(NPHP1):c.329+291T>C rs17842673 0.00579
NM_001128178.3(NPHP1):c.1642+197C>T rs76478851 0.00412
NM_001128178.3(NPHP1):c.1159-347C>T rs150098708 0.00389
NM_001128178.3(NPHP1):c.523-323G>A rs114292676 0.00381
NM_001128178.3(NPHP1):c.1643-46T>C rs116329819 0.00310
NM_001128178.3(NPHP1):c.624+48G>A rs116733998 0.00310
NM_001128178.3(NPHP1):c.133A>C (p.Ile45Leu) rs145479679 0.00211
NM_001128178.3(NPHP1):c.771+59G>A rs143174377 0.00203
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys) rs149887461 0.00033
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met) rs200201945 0.00033
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00022
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=) rs372637635 0.00005
NM_001128178.3(NPHP1):c.1701G>C (p.Val567=) rs200521790 0.00003
NM_001128178.3(NPHP1):c.-17G>A rs566875282 0.00001
NM_001128178.3(NPHP1):c.*206C>G
NM_001128178.3(NPHP1):c.1083+3657G>A
NM_001128178.3(NPHP1):c.1083+9A>G rs1574117534
NM_001128178.3(NPHP1):c.1530-9C>T rs1166587245
NM_001128178.3(NPHP1):c.1872T>A (p.Thr624=) rs1574045410
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331
NM_001128178.3(NPHP1):c.625-82G>C rs116047229
NM_001128178.3(NPHP1):c.684A>G (p.Val228=) rs138705625
NM_001128178.3(NPHP1):c.69+221_69+222del rs566213949
NM_001128178.3(NPHP1):c.771+201G>T rs199669720
NM_001128178.3(NPHP1):c.954+224_954+227del rs368447278

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