ClinVar Miner

List of variants studied for Exostoses, multiple, type 2 by Illumina Laboratory Services, Illumina

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_207122.1(EXT2):c.-311G>A rs3923808 0.50004
NM_207122.1(EXT2):c.-331T>C rs10458911 0.25844
NM_207122.2(EXT2):c.-31+7G>T rs58861092 0.08791
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_207122.2(EXT2):c.264C>T (p.His88=) rs35455466 0.01345
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_207122.2(EXT2):c.*472C>T rs74424177 0.00819
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_207122.2(EXT2):c.-148G>A rs115238130 0.00479
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_207122.2(EXT2):c.*101G>C rs117755165 0.00332
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_207122.2(EXT2):c.2019-14T>C rs141747687 0.00173
NM_207122.2(EXT2):c.918C>T (p.Phe306=) rs35436405 0.00139
NM_207122.2(EXT2):c.*646C>T rs189528648 0.00131
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) rs75987184 0.00088
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_207122.2(EXT2):c.*1153A>T rs185285766 0.00034
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_207122.2(EXT2):c.*945G>A rs886048282 0.00019
NM_207122.2(EXT2):c.*838T>G rs991198189 0.00016
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_207122.2(EXT2):c.*129C>G rs141864253 0.00011
NM_207122.2(EXT2):c.*139C>G rs191451519 0.00011
NM_207122.2(EXT2):c.*440A>G rs529075674 0.00011
NM_207122.2(EXT2):c.*731A>G rs886048281 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_207122.2(EXT2):c.-45G>T rs1276665372 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_207122.2(EXT2):c.*381T>C rs886048280 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.201G>A (p.Pro67=) rs201374853 0.00006
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_207122.1(EXT2):c.-307G>T rs569630494 0.00004
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00004
NM_207122.2(EXT2):c.*339C>T rs759615273 0.00003
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.-26G>T rs369437823 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.*3C>T rs542907948 0.00001
NM_207122.2(EXT2):c.*862T>G rs192098481 0.00001
NM_207122.2(EXT2):c.*93G>A rs886048278 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys) rs763384036 0.00001
NM_207122.2(EXT2):c.860C>A (p.Thr287Asn) rs886048275 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.1(EXT2):c.-242G>T rs1953882206
NM_207122.2(EXT2):c.*368C>T rs886048279
NM_207122.2(EXT2):c.*672G>C rs1956079951
NM_207122.2(EXT2):c.*795C>A rs76505631
NM_207122.2(EXT2):c.*802A>G rs531942530
NM_207122.2(EXT2):c.*882G>T rs1956082516
NM_207122.2(EXT2):c.-197C>G rs78395259
NM_207122.2(EXT2):c.-61C>G rs12800404
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1291G>A (p.Asp431Asn) rs886048276
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys) rs1955587849
NM_207122.2(EXT2):c.1575T>A (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.805C>T (p.Leu269=) rs773486418
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu) rs763718818

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