List of variants reported as likely pathogenic for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003332.4(TYROBP):c.141del (p.Met48fs)	rs386833840	0.00001
NM_018965.4(TREM2):c.313del (p.Ala105fs)	rs386834141	0.00001
NM_018965.4(TREM2):c.482+2T>C	rs386834144	0.00001
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)	rs386833839
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)	rs386833841
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)	rs386833842
NM_018965.4(TREM2):c.269del (p.Gly90fs)	rs386834140
NM_018965.4(TREM2):c.40+4_40+6del	rs386834142
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)	rs386834143

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