ClinVar Miner

List of variants studied for LZTR1-related schwannomatosis by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile) rs376331457 0.00003
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn) rs775051211 0.00001
NM_006767.4(LZTR1):c.1546G>C (p.Ala516Pro) rs1288910632 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 0.00001
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.2070del (p.Tyr691fs)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.520G>A (p.Ala174Thr)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.980G>T (p.Ser327Ile)

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