ClinVar Miner

List of variants studied for Noonan syndrome 10

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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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.1412G>A (p.Arg471His) rs139031749 0.00021
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.1303C>T (p.Arg435Trp) rs369722558 0.00008
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile) rs775434314 0.00007
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp) rs751516987 0.00006
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.2260A>C (p.Asn754His) rs745755957 0.00005
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln) rs773696598 0.00005
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly) rs777443417 0.00005
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.1978G>A (p.Glu660Lys) rs151000791 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) rs141161152 0.00002
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1254G>C (p.Arg418Ser) rs746064505 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1354-5T>A rs368421766 0.00001
NM_006767.4(LZTR1):c.1689G>A (p.Glu563=) rs977829129 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696 0.00001
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg) rs1311281590 0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr) rs1569154492 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val) rs770762358 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.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro) rs1224523480
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser) rs746064505
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His) rs767374538
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)
NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) rs1924752851
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006767.4(LZTR1):c.1739T>C (p.Leu580Pro) rs1555928697
NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys) rs369697241
NM_006767.4(LZTR1):c.1785+1G>C rs145594158
NM_006767.4(LZTR1):c.2070-12C>A rs779677120
NM_006767.4(LZTR1):c.209A>T (p.Lys70Met)
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) rs1601723615
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) rs575193991
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter) rs1489766065
NM_006767.4(LZTR1):c.2470C>G (p.Leu824Val)
NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs) rs2147971083
NM_006767.4(LZTR1):c.2509G>A (p.Gly837Ser) rs1924904363
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.271A>G (p.Met91Val) rs1135401945
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.273_274delinsAA (p.Met91_Leu92delinsIleIle)
NM_006767.4(LZTR1):c.274C>A (p.Leu92Ile)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.322G>A (p.Ala108Thr) rs1358951592
NM_006767.4(LZTR1):c.360C>A (p.His120Gln) rs1249605552
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
NM_006767.4(LZTR1):c.404G>T (p.Gly135Val) rs1425031926
NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)
NM_006767.4(LZTR1):c.443A>G (p.Asn148Ser)
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu) rs2147962674
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr) rs1924227635
NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser) rs1423756155
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.895_898del (p.Phe299fs) rs1924613524

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