ClinVar Miner

List of variants in gene LZTR1 reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Included ClinVar conditions (181):
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Gene type:
ClinVar version:
Total variants: 39
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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 0.00017
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
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.1018C>T (p.Arg340Ter) rs149850248 0.00005
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.485G>A (p.Trp162Ter) rs1458120855 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.993+1G>A rs770368435 0.00001
NC_000022.10:g.(?_21336586)_(21353321_?)del
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
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.1676T>A (p.Leu559Ter)
NM_006767.4(LZTR1):c.1785+1G>C rs145594158
NM_006767.4(LZTR1):c.1785+2T>C
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
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.2501_2502del (p.Ala834fs) rs2147971083
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.401-1G>A
NM_006767.4(LZTR1):c.494G>A (p.Trp165Ter)
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181

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