ClinVar Miner

List of variants reported as likely pathogenic for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

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Total variants: 9
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HGVS dbSNP
NM_003332.3(TYROBP):c.116G>A (p.Ser39Asn) rs386833839
NM_003332.3(TYROBP):c.141delG (p.Met48TrpfsTer6) rs386833840
NM_003332.3(TYROBP):c.145G>C (p.Gly49Arg) rs386833841
NM_003332.3(TYROBP):c.262G>T (p.Glu88Ter) rs386833842
NM_018965.3(TREM2):c.269del (p.Gly90fs) rs386834140
NM_018965.3(TREM2):c.313del (p.Ala105fs) rs386834141
NM_018965.3(TREM2):c.40+3_40+5del rs386834142
NM_018965.3(TREM2):c.40G>T (p.Glu14Ter) rs386834143
NM_018965.3(TREM2):c.482+2T>C rs386834144

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