List of variants reported as pathogenic for renal tubular dysgenesis

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)	rs367797185	0.00004
NC_000001.11:g.230705933C>T	rs74315283	0.00003
NM_000537.4(REN):c.127C>T (p.Arg43Ter)	rs397514690	0.00003
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)	rs397514688	0.00003
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)	rs397514689	0.00002
NM_000537.4(REN):c.145C>T (p.Arg49Ter)	rs121917741	0.00001
NM_000685.5(AGTR1):c.110dup (p.Ile38fs)	rs387906577	0.00001
NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter)	rs397514687	0.00001
NM_000685.5(AGTR1):c.845C>T (p.Thr282Met)	rs104893677	0.00001
NM_000789.4(ACE):c.12_31del (p.Ser5fs)	rs797045079	0.00001
NC_000001.11:g.230703316del	rs387906578
NC_000001.11:g.230710247G>A	rs121912702
NM_000537.4(REN):c.299_300del (p.Lys100fs)	rs2102314045
NM_000537.4(REN):c.404C>A (p.Ser135Tyr)	rs397514691
NM_000537.4(REN):c.689G>A (p.Arg230Lys)	rs121917742
NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter)	rs398122935
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter)	rs1417391173
NM_000789.4(ACE):c.1319_1322del (p.Leu440fs)	rs387906576
NM_000789.4(ACE):c.1361del (p.Leu454fs)	rs2049738010
NM_000789.4(ACE):c.1384dup (p.Ile462fs)	rs1409924291
NM_000789.4(ACE):c.1454dup (p.Ser486fs)	rs758933315
NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs)	rs1599142041
NM_000789.4(ACE):c.1744C>T (p.Gln582Ter)	rs1599143221
NM_000789.4(ACE):c.21_30del (p.Arg8fs)
NM_000789.4(ACE):c.3409C>T (p.Gln1137Ter)
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)	rs778759606
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)	rs983649759
NM_000789.4(ACE):c.793C>T (p.Arg265Ter)
NM_000789.4(ACE):c.798C>G (p.Tyr266Ter)	rs121912704
NM_000789.4(ACE):c.899del (p.Phe300fs)	rs1387186484
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)	rs1057519437

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