List of variants in gene ACE reported as pathogenic for renal tubular dysgenesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)	rs367797185	0.00004
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_000789.4(ACE):c.12_31del (p.Ser5fs)	rs797045079	0.00001
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

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