ClinVar Miner

List of variants in gene ACP5 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) rs1025967277 0.00002
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) rs747619825 0.00001
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter) rs1171155255 0.00001
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) rs781199182 0.00001
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208 0.00001
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670 0.00001
NM_001611.5(ACP5):c.799del (p.Ser267fs) rs1294990891 0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671 0.00001
NC_000019.9:g.(?_11685805)_(11688152_?)del
NC_000019.9:g.(?_11685825)_(11688132_?)del
NM_001611.5(ACP5):c.136del (p.Arg46fs) rs2145093044
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter) rs965741395
NM_001611.5(ACP5):c.257del (p.Phe86fs) rs2145092503
NM_001611.5(ACP5):c.259del (p.Gln87fs) rs2145092472
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001611.5(ACP5):c.266_272del (p.Thr89fs) rs2145091349
NM_001611.5(ACP5):c.361del (p.Ile121fs) rs749753832
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)
NM_001611.5(ACP5):c.44_65del (p.Leu15fs) rs1973203506
NM_001611.5(ACP5):c.526del (p.Arg176fs) rs2145089035
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)
NM_001611.5(ACP5):c.625_626del (p.Trp209fs) rs1599634435
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.654_658del (p.Cys219fs)
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg) rs2145087756
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn) rs2145087630
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter) rs1973142593
NM_001611.5(ACP5):c.736-2A>G rs1973089024
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600

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