ClinVar Miner

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

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_000789.4(ACE):c.*591_*592del rs202110175
NM_000789.4(ACE):c.1020C>T (p.Pro340=)
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431
NM_000789.4(ACE):c.140A>G (p.Gln47Arg)
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys)
NM_000789.4(ACE):c.1775A>G (p.Asp592Gly) rs12709426
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715
NM_000789.4(ACE):c.2392A>G (p.Ile798Val) rs117647476
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892
NM_000789.4(ACE):c.2952G>A (p.Val984=) rs3730044
NM_000789.4(ACE):c.3363T>C (p.Ser1121=)
NM_000789.4(ACE):c.3489C>T (p.Ala1163=)
NM_000789.4(ACE):c.3560C>T (p.Thr1187Met) rs12709442
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912
NM_000789.4(ACE):c.3836G>A (p.Arg1279Gln) rs4980
NM_000789.4(ACE):c.44_49CGCTGC[3] (p.15_16PL[3]) rs532691783
NM_000789.4(ACE):c.477C>T (p.Pro159=)
NM_000789.4(ACE):c.955G>T (p.Ala319Ser)

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