ClinVar Miner

List of variants in gene EXT2 reported as benign for connective tissue disorder

Included ClinVar conditions (343):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.2(EXT2):c.1807-51T>C rs11037909 0.25427
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
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.1174-18G>T rs143595300 0.01161
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.*56G>A rs77554103 0.00371
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.358G>A (p.Val120Ile) rs115948531 0.00070
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_207122.2(EXT2):c.150C>T (p.Ile50=) rs138982530 0.00035
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.1080-16T>G rs377582390 0.00023
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) rs144238557 0.00018
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
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.1663-16A>G rs201032203 0.00004
NM_207122.2(EXT2):c.1806+10C>T rs200520590 0.00004
NM_207122.2(EXT2):c.940-18C>G rs375536301 0.00004
NM_207122.2(EXT2):c.996C>T (p.Ser332=) rs142692757 0.00004
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1681G>C (p.Asp561His) rs151291188 0.00003
NM_207122.2(EXT2):c.*3C>T rs542907948 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101 0.00001
NM_207122.2(EXT2):c.*795C>A rs76505631
NM_207122.2(EXT2):c.*802A>G rs531942530
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.143A>T (p.His48Leu) rs1590547374
NM_207122.2(EXT2):c.1806+9del rs372901342
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
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.744-10dup

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