ClinVar Miner

List of variants in gene ACP5 reported as 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: 12
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HGVS dbSNP gnomAD frequency
NM_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_001611.5(ACP5):c.225C>T (p.Phe75=) rs62638747 0.09420
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08684
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03835
NM_001611.5(ACP5):c.855T>C (p.Thr285=) rs77911902 0.03530
NM_001611.5(ACP5):c.276C>T (p.Asp92=) rs34375794 0.00599
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_001611.5(ACP5):c.955C>T (p.Leu319=) rs141909893 0.00193
NM_001611.5(ACP5):c.390-11C>G rs182019242 0.00183
NM_001611.5(ACP5):c.861C>T (p.Asp287=) rs147115345 0.00128
NM_001611.5(ACP5):c.601C>T (p.Leu201=) rs568957938 0.00018
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) rs373030121 0.00001

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