ClinVar Miner

List of variants reported as likely pathogenic for Renal tubular dysgenesis of genetic origin

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.1342+1G>T rs1404223383 0.00001
NM_001384479.1(AGT):c.829+1G>T rs747815674 0.00001
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter) rs1417391173
NM_000789.4(ACE):c.2062C>T (p.Gln688Ter)
NM_000789.4(ACE):c.2T>C (p.Met1Thr) rs1005792910
NM_000789.4(ACE):c.3503+1G>C rs779188587
NM_000789.4(ACE):c.3G>T (p.Met1Ile) rs2510680823
NM_000789.4(ACE):c.798C>A (p.Tyr266Ter) rs121912704
NM_000789.4(ACE):c.973del (p.Val325fs) rs2510687443
NM_001384479.1(AGT):c.1195G>T (p.Glu399Ter)
NM_001384479.1(AGT):c.1212del (p.Lys404fs)
NM_001384479.1(AGT):c.1264G>T (p.Glu422Ter)
NM_001384479.1(AGT):c.749del (p.Thr250fs) rs2527714738
NM_001384479.1(AGT):c.816C>G (p.Tyr272Ter)

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