ClinVar Miner

List of variants in gene ACE reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000789.3(ACE):c.12_31del20 (p.Ser5Alafs) rs797045079
NM_000789.3(ACE):c.1319_1322delTGGA (p.Leu440Profs) rs387906576
NM_000789.3(ACE):c.1486C>T (p.Arg496Ter) rs397514688
NM_000789.3(ACE):c.2371C>T (p.Arg791Ter) rs397514689
NM_000789.3(ACE):c.798C>G (p.Tyr266Ter) rs121912704

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