ClinVar Miner

List of variants reported as likely benign for Spondyloenchondrodysplasia with immune dysregulation by Invitae

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Total variants: 10
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NM_001611.5(ACP5):c.132G>A (p.Thr44=) rs150582430
NM_001611.5(ACP5):c.299G>A (p.Arg100His) rs141651325
NM_001611.5(ACP5):c.30G>T (p.Leu10=) rs139654624
NM_001611.5(ACP5):c.495T>C (p.Asp165=) rs757465602
NM_001611.5(ACP5):c.516T>A (p.Pro172=) rs887425978
NM_001611.5(ACP5):c.522G>A (p.Arg174=) rs376767095
NM_001611.5(ACP5):c.543C>A (p.Ala181=) rs139822120
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) rs142179752
NM_001611.5(ACP5):c.828C>T (p.Asn276=) rs371003771
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) rs62638748

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