ClinVar Miner

List of variants in gene ACE reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.1775A>G (p.Asp592Gly) rs12709426 0.01536
NM_000789.4(ACE):c.*591_*592del rs202110175 0.01419
NM_000789.4(ACE):c.3836G>A (p.Arg1279Gln) rs4980 0.00541
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431 0.00493
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NM_000789.4(ACE):c.3560C>T (p.Thr1187Met) rs12709442 0.00274
NM_000789.4(ACE):c.2392A>G (p.Ile798Val) rs117647476 0.00224
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912 0.00150
NM_000789.4(ACE):c.3489C>T (p.Ala1163=) rs4979 0.00130
NM_000789.4(ACE):c.3363T>C (p.Ser1121=) rs200201337 0.00037
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715 0.00034
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys) rs149784122 0.00019
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
NM_000789.4(ACE):c.1020C>T (p.Pro340=) rs3730026 0.00009
NM_000789.4(ACE):c.140A>G (p.Gln47Arg) rs767353320 0.00007
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892 0.00006
NM_000789.4(ACE):c.*438G>T rs545604288 0.00001
NM_000789.4(ACE):c.2952G>A (p.Val984=) rs3730044
NM_000789.4(ACE):c.44CGCTGC[3] (p.15PL[3]) rs532691783
NM_000789.4(ACE):c.955G>T (p.Ala319Ser) rs34126458

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