ClinVar Miner

List of variants in gene combination LOC130067016, LZTR1 reported as pathogenic for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter) rs762434811 0.00001
NM_006767.4(LZTR1):c.120C>G (p.Tyr40Ter)
NM_006767.4(LZTR1):c.19_21delinsCC (p.Thr7fs)
NM_006767.4(LZTR1):c.19del (p.Thr7fs)
NM_006767.4(LZTR1):c.1A>G (p.Met1Val) rs1569152752
NM_006767.4(LZTR1):c.25_26delinsA (p.Gly9fs)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.5_11dup (p.Gly5fs)

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