ClinVar Miner

List of variants studied for LZTR1-related schwannomatosis by MGZ Medical Genetics Center

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter) rs762434811 0.00001
NM_006767.4(LZTR1):c.529del (p.Ala177fs) rs558510095 0.00001
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006767.4(LZTR1):c.184del (p.Glu62fs)
NM_006767.4(LZTR1):c.1893del (p.Lys632fs)
NM_006767.4(LZTR1):c.671_672insG (p.Ile224fs)
NM_006767.4(LZTR1):c.680C>T (p.Ser227Phe)
NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter) rs2147964053
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)

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