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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.1018C>T (p.Arg340Ter)	rs149850248	0.00005
NM_006767.4(LZTR1):c.516_517insT (p.Val173fs)	rs1472913919	0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	rs797045165	0.00001
NM_006767.4(LZTR1):c.1281C>A (p.Cys427Ter)
NM_006767.4(LZTR1):c.1357G>T (p.Glu453Ter)
NM_006767.4(LZTR1):c.1468_1471del (p.Ala490fs)
NM_006767.4(LZTR1):c.1786-2A>G	rs2147968271
NM_006767.4(LZTR1):c.1886_1887del (p.Val629fs)	rs1924776523

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