ClinVar Miner

List of variants in gene combination LOC129937586, NPHP3, NPHP3-ACAD11 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.65C>T (p.Ala22Val) rs369447363 0.00011
NM_153240.5(NPHP3):c.87G>T (p.Glu29Asp) rs951093397 0.00010
NM_153240.5(NPHP3):c.233G>T (p.Gly78Val) rs202142404 0.00006
NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro) rs867826443 0.00005
NM_153240.5(NPHP3):c.185G>A (p.Arg62His) rs1295666035 0.00004
NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu) rs763699273 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.194G>T (p.Gly65Val) rs763361874 0.00003
NM_153240.5(NPHP3):c.155C>A (p.Ala52Glu) rs747055547 0.00002
NM_153240.5(NPHP3):c.215C>T (p.Ala72Val) rs762186797 0.00002
NM_153240.5(NPHP3):c.284G>A (p.Arg95Lys) rs1007066273 0.00002
NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu) rs753467164 0.00001
NM_153240.5(NPHP3):c.146C>T (p.Ala49Val) rs763420553 0.00001
NM_153240.5(NPHP3):c.158C>G (p.Ala53Gly) rs538317431 0.00001
NM_153240.5(NPHP3):c.208C>T (p.Leu70=) rs765533675 0.00001
NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg) rs1217928367 0.00001
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu) rs1303757034 0.00001
NM_153240.5(NPHP3):c.262G>T (p.Ala88Ser) rs1233421790 0.00001
NM_153240.5(NPHP3):c.289G>A (p.Glu97Lys) rs1188761499 0.00001
NM_153240.5(NPHP3):c.112G>A (p.Ala38Thr) rs2108008149
NM_153240.5(NPHP3):c.133T>C (p.Phe45Leu)
NM_153240.5(NPHP3):c.140G>T (p.Arg47Leu) rs1195739416
NM_153240.5(NPHP3):c.146C>G (p.Ala49Gly) rs763420553
NM_153240.5(NPHP3):c.151G>A (p.Ala51Thr)
NM_153240.5(NPHP3):c.151_152delinsTT (p.Ala51Leu) rs1553775776
NM_153240.5(NPHP3):c.155C>T (p.Ala52Val) rs747055547
NM_153240.5(NPHP3):c.155CAG[1] (p.Ala53del) rs766573820
NM_153240.5(NPHP3):c.160G>A (p.Gly54Arg) rs1054438148
NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu) rs1281178184
NM_153240.5(NPHP3):c.169_174dup (p.Pro57_Gly58dup) rs1553775768
NM_153240.5(NPHP3):c.170C>T (p.Pro57Leu)
NM_153240.5(NPHP3):c.187G>C (p.Gly63Arg) rs753458157
NM_153240.5(NPHP3):c.197C>T (p.Ala66Val) rs2108007880
NM_153240.5(NPHP3):c.260C>G (p.Ala87Gly) rs886058005
NM_153240.5(NPHP3):c.265G>A (p.Ala89Thr) rs1432366479
NM_153240.5(NPHP3):c.274G>C (p.Glu92Gln)
NM_153240.5(NPHP3):c.46A>G (p.Ile16Val)
NM_153240.5(NPHP3):c.73G>T (p.Gly25Cys)
NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys) rs1465502034
NM_153240.5(NPHP3):c.79G>A (p.Ala27Thr) rs2108008230

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