ClinVar Miner

List of variants in gene ACP5 studied for Spondyloenchondrodysplasia with immune dysregulation

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Total variants: 25
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HGVS dbSNP
NC_000019.10:g.(?_11574990)_(11577337_?)dup
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208
NM_001611.5(ACP5):c.757G>A (p.Val253Met)
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) rs146196342
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp) rs199986980
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001611.5(ACP5):c.815G>A (p.Arg272His)
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)
NM_001611.5(ACP5):c.828C>T (p.Asn276=) rs371003771
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) rs377528244
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)
NM_001611.5(ACP5):c.846C>G (p.His282Gln) rs749645391
NM_001611.5(ACP5):c.855T>C (p.Thr285=) rs77911902
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) rs62638748
NM_001611.5(ACP5):c.861C>T (p.Asp287=) rs147115345
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) rs763811862
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)
NM_001611.5(ACP5):c.955C>T (p.Leu319=) rs141909893
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) rs145265651
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) rs145265651

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