ClinVar Miner

List of variants in gene ACP5 reported as likely benign for Spondyloenchondrodysplasia with immune dysregulation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) rs62638748 0.00170
NM_001611.5(ACP5):c.299G>A (p.Arg100His) rs141651325 0.00096
NM_001611.5(ACP5):c.30G>T (p.Leu10=) rs139654624 0.00022
NM_001611.5(ACP5):c.597C>T (p.Tyr199=) rs750930124 0.00020
NM_001611.5(ACP5):c.132G>A (p.Thr44=) rs150582430 0.00014
NM_001611.5(ACP5):c.15G>T (p.Thr5=) rs772911511 0.00010
NM_001611.5(ACP5):c.582G>A (p.Ala194=) rs367699467 0.00007
NM_001611.5(ACP5):c.720C>T (p.His240=) rs374919506 0.00007
NM_001611.5(ACP5):c.783G>A (p.Gly261=) rs141519703 0.00006
NM_001611.5(ACP5):c.389+15G>T rs562918956 0.00004
NM_001611.5(ACP5):c.636C>T (p.Ala212=) rs368852148 0.00004
NM_001611.5(ACP5):c.495T>C (p.Asp165=) rs757465602 0.00003
NM_001611.5(ACP5):c.621C>T (p.Pro207=) rs372107388 0.00003
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) rs142179752 0.00003
NM_001611.5(ACP5):c.642C>T (p.His214=) rs748235353 0.00003
NM_001611.5(ACP5):c.714C>T (p.Cys238=) rs199512530 0.00003
NM_001611.5(ACP5):c.828C>T (p.Asn276=) rs371003771 0.00003
NM_001611.5(ACP5):c.262-20G>A rs200885075 0.00002
NM_001611.5(ACP5):c.315C>T (p.Tyr105=) rs2229530 0.00002
NM_001611.5(ACP5):c.477A>C (p.Thr159=) rs147105591 0.00002
NM_001611.5(ACP5):c.480A>G (p.Leu160=) rs373684791 0.00002
NM_001611.5(ACP5):c.262-15A>G rs200250079 0.00001
NM_001611.5(ACP5):c.279A>G (p.Val93=) rs1351504233 0.00001
NM_001611.5(ACP5):c.327A>G (p.Gly109=) rs1973176548 0.00001
NM_001611.5(ACP5):c.522G>A (p.Arg174=) rs376767095 0.00001
NM_001611.5(ACP5):c.579G>A (p.Ala193=) rs752926629 0.00001
NM_001611.5(ACP5):c.735+18G>A rs1413963470 0.00001
NM_001611.5(ACP5):c.735+7G>T rs1484884500 0.00001
NM_001611.5(ACP5):c.756C>T (p.Gly252=) rs139096747 0.00001
NM_001611.5(ACP5):c.765C>T (p.Tyr255=) rs549955384 0.00001
NM_001611.5(ACP5):c.777G>T (p.Gly259=) rs368442469 0.00001
NM_001611.5(ACP5):c.132G>C (p.Thr44=)
NM_001611.5(ACP5):c.15G>A (p.Thr5=) rs772911511
NM_001611.5(ACP5):c.18G>A (p.Ala6=)
NM_001611.5(ACP5):c.261+13C>T
NM_001611.5(ACP5):c.261+14A>T
NM_001611.5(ACP5):c.262-13_262-12del
NM_001611.5(ACP5):c.28C>T (p.Leu10=)
NM_001611.5(ACP5):c.309C>T (p.Pro103=)
NM_001611.5(ACP5):c.324C>T (p.Ala108=)
NM_001611.5(ACP5):c.330C>T (p.Asn110=) rs2145090965
NM_001611.5(ACP5):c.333T>C (p.His111=)
NM_001611.5(ACP5):c.351C>A (p.Val117=)
NM_001611.5(ACP5):c.351C>T (p.Val117=) rs2145090791
NM_001611.5(ACP5):c.354T>C (p.Ser118=) rs1337015672
NM_001611.5(ACP5):c.366A>C (p.Ala122=)
NM_001611.5(ACP5):c.381C>T (p.Ser127=) rs2145090669
NM_001611.5(ACP5):c.389+13C>T
NM_001611.5(ACP5):c.389+17C>T
NM_001611.5(ACP5):c.389+9C>T
NM_001611.5(ACP5):c.390-11C>T rs182019242
NM_001611.5(ACP5):c.390-17C>T
NM_001611.5(ACP5):c.39G>A (p.Leu13=)
NM_001611.5(ACP5):c.417G>A (p.Leu139=) rs2145089622
NM_001611.5(ACP5):c.420C>T (p.His140=) rs1281816540
NM_001611.5(ACP5):c.438C>T (p.Thr146=) rs2145089524
NM_001611.5(ACP5):c.459T>C (p.Phe153=)
NM_001611.5(ACP5):c.510G>A (p.Gln170=)
NM_001611.5(ACP5):c.516T>A (p.Pro172=) rs887425978
NM_001611.5(ACP5):c.51C>A (p.Ser17=)
NM_001611.5(ACP5):c.531C>T (p.Asp177=)
NM_001611.5(ACP5):c.543C>A (p.Ala181=) rs139822120
NM_001611.5(ACP5):c.585C>G (p.Ala195=) rs766688951
NM_001611.5(ACP5):c.60T>C (p.Asp20=)
NM_001611.5(ACP5):c.612C>A (p.Gly204=)
NM_001611.5(ACP5):c.651C>A (p.Thr217=)
NM_001611.5(ACP5):c.658C>T (p.Leu220=)
NM_001611.5(ACP5):c.660G>C (p.Leu220=) rs1433238601
NM_001611.5(ACP5):c.663C>G (p.Val221=) rs2145088053
NM_001611.5(ACP5):c.670C>T (p.Leu224=)
NM_001611.5(ACP5):c.678A>C (p.Pro226=) rs1257952148
NM_001611.5(ACP5):c.69C>T (p.Thr23=)
NM_001611.5(ACP5):c.702T>G (p.Thr234=)
NM_001611.5(ACP5):c.730C>T (p.Leu244=)
NM_001611.5(ACP5):c.735+10del
NM_001611.5(ACP5):c.735+13T>A
NM_001611.5(ACP5):c.735+14G>A
NM_001611.5(ACP5):c.735+15G>C
NM_001611.5(ACP5):c.735+8C>A
NM_001611.5(ACP5):c.735+8C>T rs781252304
NM_001611.5(ACP5):c.736-6C>T
NM_001611.5(ACP5):c.738C>T (p.Tyr246=)
NM_001611.5(ACP5):c.759G>A (p.Val253=)
NM_001611.5(ACP5):c.780T>C (p.Ala260=) rs2145082207
NM_001611.5(ACP5):c.807G>A (p.Arg269=)
NM_001611.5(ACP5):c.822C>G (p.Val274=)
NM_001611.5(ACP5):c.825C>A (p.Pro275=) rs760569679
NM_001611.5(ACP5):c.870T>C (p.Gly290=)
NM_001611.5(ACP5):c.909T>C (p.Thr303=) rs2145081214
NM_001611.5(ACP5):c.90C>T (p.Ala30=)
NM_001611.5(ACP5):c.930G>A (p.Ser310=)
NM_001611.5(ACP5):c.954G>A (p.Arg318=)
NM_001611.5(ACP5):c.960G>A (p.Pro320=)
NM_001611.5(ACP5):c.963G>A (p.Arg321=) rs2145080770

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.