ClinVar Miner

List of variants studied for LZTR1-related schwannomatosis by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs) rs1924721014
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys) rs1870169267

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