ClinVar Miner

List of variants in gene EXT2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
NM_207122.2(EXT2):c.1663-566A>G rs1845618 0.23790
NM_207122.2(EXT2):c.1663-500G>C rs1113132 0.23620
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_207122.2(EXT2):c.1174-18G>T rs143595300 0.01161
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) rs115948531 0.00070
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
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.2013G>A (p.Val671=) rs371019537 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.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.588C>T (p.Pro196=) rs200009614 0.00005
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) rs145878394 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.9G>A (p.Ala3=) rs774142487 0.00001
NM_207122.2(EXT2):c.*10T>C
NM_207122.2(EXT2):c.*4G>A
NM_207122.2(EXT2):c.1056C>G (p.Phe352Leu)
NM_207122.2(EXT2):c.111C>T (p.Leu37=)
NM_207122.2(EXT2):c.1173+14171G>T
NM_207122.2(EXT2):c.1931T>C (p.Ile644Thr)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
NM_207122.2(EXT2):c.2137C>T (p.Pro713Ser)
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.385G>T (p.Glu129Ter)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.523G>C (p.Ala175Pro)
NM_207122.2(EXT2):c.558C>T (p.His186=)
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.666C>G (p.Tyr222Ter) rs121918281
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.757T>C (p.Phe253Leu)
NM_207122.2(EXT2):c.767C>A (p.Ser256Ter)
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818

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