ClinVar Miner

List of variants in gene NPHP3, NPHP3-ACAD11 studied for Inborn genetic diseases

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.1172C>G (p.Pro391Arg) rs138982161 0.00026
NM_153240.5(NPHP3):c.1813C>T (p.Arg605Cys) rs144731534 0.00014
NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln) rs142084136 0.00010
NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp) rs146054765 0.00009
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_153240.5(NPHP3):c.2986G>A (p.Val996Met) rs150867534 0.00007
NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) rs147836124 0.00006
NM_153240.5(NPHP3):c.2266C>T (p.Arg756Trp) rs183049702 0.00006
NM_153240.5(NPHP3):c.548T>C (p.Ile183Thr) rs563850993 0.00006
NM_153240.5(NPHP3):c.2423A>C (p.Lys808Thr) rs763361711 0.00004
NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn) rs141073933 0.00004
NM_153240.5(NPHP3):c.2080A>G (p.Lys694Glu) rs374742856 0.00003
NM_153240.5(NPHP3):c.2167G>A (p.Ala723Thr) rs770302939 0.00002
NM_153240.5(NPHP3):c.3212C>T (p.Ala1071Val) rs374241338 0.00002
NM_153240.5(NPHP3):c.1654C>A (p.Pro552Thr) rs776287337 0.00001
NM_153240.5(NPHP3):c.1920T>G (p.Asp640Glu) rs869312915 0.00001
NM_153240.5(NPHP3):c.2114G>A (p.Arg705His) rs139548649 0.00001
NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) rs1451958461 0.00001
NM_153240.5(NPHP3):c.2731G>A (p.Val911Ile) rs370506189 0.00001
NM_153240.5(NPHP3):c.2934T>A (p.Asp978Glu) rs141960792 0.00001
NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser) rs1157229330 0.00001
NM_153240.5(NPHP3):c.334A>G (p.Met112Val) rs1465252607 0.00001
NM_153240.5(NPHP3):c.653A>G (p.Asn218Ser) rs199956251 0.00001
NM_153240.5(NPHP3):c.1576C>A (p.Leu526Ile)
NM_153240.5(NPHP3):c.1582G>A (p.Val528Met)
NM_153240.5(NPHP3):c.1624A>C (p.Lys542Gln)
NM_153240.5(NPHP3):c.1693A>C (p.Met565Leu)
NM_153240.5(NPHP3):c.1723A>G (p.Ile575Val)
NM_153240.5(NPHP3):c.1777A>T (p.Thr593Ser)
NM_153240.5(NPHP3):c.1903A>C (p.Met635Leu)
NM_153240.5(NPHP3):c.2077A>C (p.Ser693Arg)
NM_153240.5(NPHP3):c.2122A>G (p.Thr708Ala)
NM_153240.5(NPHP3):c.2633G>T (p.Ser878Ile)
NM_153240.5(NPHP3):c.2699A>G (p.His900Arg)
NM_153240.5(NPHP3):c.2806G>A (p.Glu936Lys)
NM_153240.5(NPHP3):c.307G>A (p.Val103Ile) rs567070832
NM_153240.5(NPHP3):c.3083G>C (p.Arg1028Pro)
NM_153240.5(NPHP3):c.3331A>G (p.Thr1111Ala)
NM_153240.5(NPHP3):c.3608C>T (p.Ala1203Val)
NM_153240.5(NPHP3):c.3713C>T (p.Ala1238Val)
NM_153240.5(NPHP3):c.3734C>T (p.Ala1245Val)
NM_153240.5(NPHP3):c.538G>C (p.Glu180Gln)
NM_153240.5(NPHP3):c.610G>A (p.Gly204Ser)
NM_153240.5(NPHP3):c.628C>T (p.Pro210Ser)
NM_153240.5(NPHP3):c.848G>A (p.Ser283Asn) rs549852830

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