ClinVar Miner

List of variants studied for Renal dysplasia and retinal aplasia

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_015102.4(NPHP4):c.-235G>A rs765435500 0.00058
NM_001023570.4(IQCB1):c.-147del rs886057829 0.00034
NM_001023570.3(IQCB1):c.-215C>T rs541891117 0.00026
NM_015102.4(NPHP4):c.-236C>T rs185912310 0.00022
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=) rs886057824 0.00001
NM_015102.4(NPHP4):c.-225G>A rs886046469 0.00001
NM_015102.4(NPHP4):c.-237G>C rs867788720 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001023570.4(IQCB1):c.-147_-142del rs72421117
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter) rs866982675
NM_001023570.4(IQCB1):c.488-13dup rs753164790
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter) rs1573920009
NM_015102.5(NPHP4):c.136-4del rs143323188
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_025132.4(WDR19):c.3184-2A>C rs1020915921

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