ClinVar Miner

List of variants in gene ACE reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.605C>T (p.Pro202Leu) rs148460287 0.00121
NM_000789.4(ACE):c.1454C>G (p.Pro485Arg) rs28730839 0.00052
NM_000789.4(ACE):c.3656T>C (p.Leu1219Pro) rs140941300 0.00025
NM_000789.4(ACE):c.1057G>A (p.Asp353Asn) rs148193919 0.00022
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
NM_000789.4(ACE):c.3497G>A (p.Arg1166His) rs201126192 0.00005
NM_000789.4(ACE):c.3584C>T (p.Ser1195Leu) rs748284095 0.00001
NM_000789.4(ACE):c.776G>A (p.Arg259His) rs370903033 0.00001
NM_000789.3(ACE):c.-35_-33delGAG rs1085307676
NM_000789.4(ACE):c.1052C>T (p.Pro351Leu) rs2229839
NM_000789.4(ACE):c.1292C>T (p.Pro431Leu) rs2049729701
NM_000789.4(ACE):c.2492C>A (p.Thr831Lys)
NM_000789.4(ACE):c.2593G>A (p.Gly865Arg)
NM_000789.4(ACE):c.3070C>T (p.Leu1024Phe)
NM_000789.4(ACE):c.3689C>T (p.Ser1230Phe) rs756742824

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