List of variants reported as uncertain significance for Renal dysplasia and retinal aplasia by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
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.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_001009894.3(RLIG1):c.*618TATT[1]	rs886049876
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_025114.4(CEP290):c.2484-18GTTTT[4]	rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup	rs886049881
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.7209+11_7209+14del	rs750259100

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