ClinVar Miner

List of variants in gene LZTR1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter) rs752547717
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.2134G>T (p.Glu712Ter) rs1409419929
NM_006767.4(LZTR1):c.2407-2A>C rs1158550690
NM_006767.4(LZTR1):c.2412dup (p.Lys805fs) rs1924895839
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.842del (p.Pro281fs) rs1419091884

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