ClinVar Miner

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

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_000789.4(ACE):c.*185G>A rs886053227
NM_000789.4(ACE):c.*319A>G rs886053228
NM_000789.4(ACE):c.*334G>A rs560077551
NM_000789.4(ACE):c.*444C>T rs562572132
NM_000789.4(ACE):c.*505C>G rs111618613
NM_000789.4(ACE):c.*564C>T rs886053229
NM_000789.4(ACE):c.*627G>A rs570149070
NM_000789.4(ACE):c.*689T>C rs886053230
NM_000789.4(ACE):c.*755T>G rs886053231
NM_000789.4(ACE):c.*788G>A rs764985002
NM_000789.4(ACE):c.*978_*980del rs539209743
NM_000789.4(ACE):c.1216G>A (p.Val406Ile) rs201117983
NM_000789.4(ACE):c.1227T>C (p.Arg409=) rs373568007
NM_000789.4(ACE):c.1229G>A (p.Arg410Gln) rs145172277
NM_000789.4(ACE):c.1311C>T (p.Ile437=) rs144657113
NM_000789.4(ACE):c.1439G>A (p.Ser480Asn) rs886053220
NM_000789.4(ACE):c.1501G>A (p.Gly501Arg) rs886053221
NM_000789.4(ACE):c.1513C>G (p.Pro505Ala) rs148943954
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185
NM_000789.4(ACE):c.1523G>A (p.Arg508Gln) rs746397573
NM_000789.4(ACE):c.1540G>A (p.Asp514Asn) rs201762720
NM_000789.4(ACE):c.1647C>T (p.Gly549=) rs199955602
NM_000789.4(ACE):c.164C>T (p.Ser55Phe) rs886053219
NM_000789.4(ACE):c.1738C>T (p.Pro580Ser) rs759719543
NM_000789.4(ACE):c.1842C>T (p.Asn614=) rs886053222
NM_000789.4(ACE):c.1872C>T (p.Pro624=) rs138812566
NM_000789.4(ACE):c.1915G>A (p.Gly639Ser) rs72845024
NM_000789.4(ACE):c.2149_2150del (p.Ile717fs) rs1219522144
NM_000789.4(ACE):c.2189C>A (p.Ala730Glu) rs767880620
NM_000789.4(ACE):c.2299G>A (p.Glu767Lys) rs148995315
NM_000789.4(ACE):c.2309T>C (p.Leu770Pro) rs886053223
NM_000789.4(ACE):c.2320A>G (p.Met774Val) rs559585445
NM_000789.4(ACE):c.2415C>T (p.Tyr805=) rs761458810
NM_000789.4(ACE):c.2460T>C (p.Asp820=) rs138035588
NM_000789.4(ACE):c.2483T>C (p.Met828Thr) rs13306091
NM_000789.4(ACE):c.2487C>T (p.Tyr829=) rs35580653
NM_000789.4(ACE):c.2570G>A (p.Arg857His) rs146089353
NM_000789.4(ACE):c.2582A>T (p.His861Leu) rs886053224
NM_000789.4(ACE):c.2626C>T (p.Pro876Ser) rs757874491
NM_000789.4(ACE):c.2636T>A (p.Leu879Gln) rs886053225
NM_000789.4(ACE):c.2642-5T>C rs770020441
NM_000789.4(ACE):c.2642-7C>T rs748611380
NM_000789.4(ACE):c.2709G>A (p.Ser903=) rs537418583
NM_000789.4(ACE):c.2739+5G>A rs774239045
NM_000789.4(ACE):c.2754G>A (p.Arg918=) rs145809210
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892
NM_000789.4(ACE):c.2952G>C (p.Val984=) rs3730044
NM_000789.4(ACE):c.2992C>T (p.Gln998Ter) rs772433710
NM_000789.4(ACE):c.3038G>C (p.Gly1013Ala) rs540734174
NM_000789.4(ACE):c.3060C>T (p.Asp1020=) rs373427509
NM_000789.4(ACE):c.3108C>A (p.Asn1036Lys) rs142947404
NM_000789.4(ACE):c.3133G>A (p.Asp1045Asn) rs140980792
NM_000789.4(ACE):c.3630G>A (p.Thr1210=) rs138240046
NM_000789.4(ACE):c.3721G>A (p.Gly1241Ser) rs367916721
NM_000789.4(ACE):c.3769G>A (p.Val1257Met) rs759857038
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912
NM_000789.4(ACE):c.383G>A (p.Gly128Asp) rs767085054
NM_000789.4(ACE):c.3877C>T (p.His1293Tyr) rs765069550
NM_000789.4(ACE):c.3884C>T (p.Pro1295Leu) rs886053226
NM_000789.4(ACE):c.411G>T (p.Arg137=) rs3729659
NM_000789.4(ACE):c.417+13C>T rs3729660
NM_000789.4(ACE):c.417+8G>A rs114000559
NM_000789.4(ACE):c.45G>C (p.Pro15=) rs1110991
NM_000789.4(ACE):c.549C>G (p.Ala183=) rs567841514
NM_000789.4(ACE):c.5G>T (p.Gly2Val) rs558593002
NM_000789.4(ACE):c.682C>T (p.Arg228Cys) rs141543325
NM_000789.4(ACE):c.714C>T (p.Asp238=) rs556856171
NM_000789.4(ACE):c.847+12G>A rs12709422
NM_000789.4(ACE):c.928A>G (p.Ser310Gly) rs144137849
NM_000789.4(ACE):c.970C>T (p.Arg324Trp) rs35141294
NM_000789.4(ACE):c.975G>T (p.Val325=) rs61738840

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