List of variants in gene LZTR1 reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome

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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: 33

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)	rs148677674	0.00077
NM_006767.4(LZTR1):c.264-13G>A	rs587777176	0.00017
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	rs587777180	0.00006
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)	rs141672122	0.00005
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.1260+1G>A	rs143868364	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.465C>G (p.Tyr155Ter)	rs753295968	0.00001
NM_006767.4(LZTR1):c.510-2A>G	rs1458682620	0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	rs1223430276	0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs)	rs1555928249
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)	rs751308379
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)	rs970027059
NM_006767.4(LZTR1):c.1925del (p.Asp642fs)	rs2147968505
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter)	rs1489766065
NM_006767.4(LZTR1):c.2405del (p.Lys802fs)	rs1601723893
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.320+1G>C	rs943939913
NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)
NM_006767.4(LZTR1):c.438dup (p.Lys147fs)	rs2147961992
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg)	rs886041925
NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser)	rs1423756155
NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)	rs1601718760
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006767.4(LZTR1):c.743G>A (p.Gly248Glu)	rs2147964105
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.993+2T>C

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