List of variants studied for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 by GeneReviews

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)	rs201258663	0.00004
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)	rs104894002	0.00002
NM_003332.4(TYROBP):c.141del (p.Met48fs)	rs386833840	0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)	rs104893998	0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)	rs121908402	0.00001
NC_000019.10:g.35905884_35911125del
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)	rs104894732
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys)	rs797044603
NM_018965.4(TREM2):c.40+4_40+6del	rs386834142

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