ClinVar Miner

List of variants in gene LZTR1 studied for Noonan syndrome 2

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Total variants: 54
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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.594-3C>T rs373968693 0.00015
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.1303C>T (p.Arg435Trp) rs369722558 0.00008
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.2260A>C (p.Asn754His) rs745755957 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991 0.00003
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.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.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 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.993+1G>A rs770368435 0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1150-1G>A
NM_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)
NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp) rs1569156890
NM_006767.4(LZTR1):c.150_151del (p.Val51fs) rs1194536394
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.1785+2T>C
NM_006767.4(LZTR1):c.1888C>T (p.Arg630Trp) rs750813513
NM_006767.4(LZTR1):c.200+1G>T
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.2102C>T (p.Pro701Leu)
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.2325G>T (p.Gln775His)
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.494G>A (p.Trp165Ter)
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_006767.4(LZTR1):c.993+2T>C

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