ClinVar Miner

List of variants in gene ACE studied for not specified

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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.2328G>A (p.Thr776=) rs4343 0.56401
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000789.4(ACE):c.3692-6G>A rs4363 0.50850
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331 0.46564
NM_000789.4(ACE):c.2306-11A>C rs4342 0.45325
NM_000789.4(ACE):c.2306-19G>C rs4341 0.45043
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309 0.36978
NM_000789.4(ACE):c.582C>T (p.Asn194=) rs4298 0.14681
NM_000789.4(ACE):c.655+13C>T rs4300 0.05562
NM_000789.4(ACE):c.3691+5C>T rs12720744 0.01507
NM_000789.4(ACE):c.3836G>A (p.Arg1279Gln) rs4980 0.00541
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr) rs145349565 0.00302
NM_000789.4(ACE):c.682C>T (p.Arg228Cys) rs141543325 0.00022
NM_000789.4(ACE):c.1922-104dup rs4319
NM_000789.4(ACE):c.3856C>A (p.Arg1286Ser) rs4364

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