List of variants in gene LZTR1 reported as 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: 30

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter)	rs777243508	0.00019
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00016
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	rs150419186	0.00010
NM_006767.4(LZTR1):c.1943-256C>T	rs761685529	0.00008
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)	rs550922200	0.00006
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter)	rs768530578	0.00002
NM_006767.4(LZTR1):c.-38T>A	rs1459786357	0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)	rs770933647	0.00001
NM_006767.4(LZTR1):c.1785+1G>A	rs145594158	0.00001
NM_006767.4(LZTR1):c.2220-17C>A	rs1249726034	0.00001
NM_006767.4(LZTR1):c.2407-2A>G	rs1158550690	0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)	rs753295968	0.00001
NM_006767.4(LZTR1):c.993+1G>A	rs770368435	0.00001
NM_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)	rs2518620018
NM_006767.4(LZTR1):c.150_151del (p.Val51fs)	rs1194536394
NM_006767.4(LZTR1):c.1602del (p.Lys534fs)	rs1268674934
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter)	rs753347937
NM_006767.4(LZTR1):c.1611del (p.Gly539fs)	rs2518621130
NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)	rs2518621757
NM_006767.4(LZTR1):c.1785+2T>C	rs1448380294
NM_006767.4(LZTR1):c.2001_2002del (p.Cys667_Asp668delinsTer)	rs1224744059
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)	rs772226479
NM_006767.4(LZTR1):c.2104G>T (p.Glu702Ter)	rs199765826
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)	rs1034395178
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln)	rs762834512
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)	rs587777179
NM_006767.4(LZTR1):c.361C>G (p.His121Asp)	rs1569154492
NM_006767.4(LZTR1):c.494G>A (p.Trp165Ter)
NM_006767.4(LZTR1):c.955del (p.Gln319fs)	rs1386054181

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