List of variants in gene LZTR1 reported as likely pathogenic for Noonan syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00017
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)	rs141672122	0.00005
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)	rs1460026299	0.00001
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu)	rs758472207	0.00001
NM_006767.4(LZTR1):c.2407-2A>G	rs1158550690	0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly)	rs1215353050	0.00001
NM_006767.4(LZTR1):c.510-2A>G	rs1458682620	0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs)	rs1555928249
NM_006767.4(LZTR1):c.1150-1G>A
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)	rs970027059
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	rs370638947
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)
NM_006767.4(LZTR1):c.438dup (p.Lys147fs)	rs2147961992
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg)	rs886041925
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.993+2T>C

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