List of variants in gene LZTR1 reported as likely pathogenic for Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00017
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)	rs550922200	0.00006
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	rs587777180	0.00006
NM_006767.4(LZTR1):c.1943-1G>A	rs1189015572	0.00004
NM_006767.4(LZTR1):c.-38T>A	rs1459786357	0.00001
NM_006767.4(LZTR1):c.263+1G>A	rs761241914	0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	rs797045165	0.00001
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)	rs751308379
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter)	rs1682503990
NM_006767.4(LZTR1):c.421del (p.Tyr141fs)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)	rs1302923931
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)

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