ClinVar Miner

List of variants reported as benign for Renal tubular dysgenesis by Genome-Nilou Lab

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.511+66A>G rs4296 0.99798
NC_000001.11:g.230705941T>C rs7080 0.94659
NC_000001.11:g.230710048A>G rs699 0.57702
NM_000789.4(ACE):c.2328G>A (p.Thr776=) rs4343 0.56401
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000789.4(ACE):c.3692-6G>A rs4363 0.50850
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331 0.46564
NM_000789.4(ACE):c.2306-11A>C rs4342 0.45325
NM_000789.4(ACE):c.2306-19G>C rs4341 0.45043
NM_000789.4(ACE):c.1922-288C>T rs4316 0.44701
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) rs5182 0.40342
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309 0.35804
NM_000537.4(REN):c.373+44C>G rs2272237 0.25415
NM_000537.4(REN):c.492+17T>G rs5707 0.25120

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