ClinVar Miner

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

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 42
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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.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.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.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 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.850C>T (p.Arg284Cys) rs797045165 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.1150-1G>A
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.200+1G>C
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.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)
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.674C>T (p.Pro225Leu)
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.743G>T (p.Gly248Val)
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)
NM_006767.4(LZTR1):c.993+2T>C

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