ClinVar Miner

List of variants studied for Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 by Fulgent Genetics, Fulgent Genetics

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853 0.00024
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00006
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.1498G>C (p.Ala500Pro) rs377075596 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.1555C>T (p.Arg519Trp) rs565364639 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr) rs778238285 0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met) rs531211534 0.00004
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln) rs149502567 0.00003
NM_006767.4(LZTR1):c.2401A>C (p.Thr801Pro) rs1215965010 0.00003
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro) rs1269824662 0.00001
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu) rs553579098 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.400+3A>G rs371956748 0.00001
NM_006767.4(LZTR1):c.-112A>G
NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1183G>C (p.Val395Leu)
NM_006767.4(LZTR1):c.1190C>T (p.Ser397Leu) rs1241079044
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1261-6T>G
NM_006767.4(LZTR1):c.1291G>A (p.Glu431Lys)
NM_006767.4(LZTR1):c.1341C>G (p.Phe447Leu)
NM_006767.4(LZTR1):c.1357GAG[1] (p.Glu454del)
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006767.4(LZTR1):c.1378G>A (p.Val460Ile)
NM_006767.4(LZTR1):c.1444G>A (p.Ala482Thr)
NM_006767.4(LZTR1):c.144C>G (p.Phe48Leu)
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly) rs770974858
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.1846G>A (p.Glu616Lys)
NM_006767.4(LZTR1):c.1888C>T (p.Arg630Trp) rs750813513
NM_006767.4(LZTR1):c.1946C>T (p.Thr649Ile) rs774401447
NM_006767.4(LZTR1):c.2057C>T (p.Ala686Val)
NM_006767.4(LZTR1):c.2201T>G (p.Met734Arg)
NM_006767.4(LZTR1):c.2220-16C>T
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter) rs1682503990
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) rs575193991
NM_006767.4(LZTR1):c.2453T>C (p.Leu818Pro)
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val) rs1051725799
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.400+6C>T
NM_006767.4(LZTR1):c.401-5C>G
NM_006767.4(LZTR1):c.421del (p.Tyr141fs)
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
NM_006767.4(LZTR1):c.467A>G (p.Lys156Arg)
NM_006767.4(LZTR1):c.484T>C (p.Trp162Arg)
NM_006767.4(LZTR1):c.510-6C>G
NM_006767.4(LZTR1):c.551G>A (p.Ser184Asn)
NM_006767.4(LZTR1):c.593+5G>A
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.938G>A (p.Cys313Tyr)

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