ClinVar Miner

List of variants in gene EXT2 reported as uncertain significance by Baylor Genetics

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1712A>G (p.His571Arg) rs150392363 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)
NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)
NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)
NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)
NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1712A>C (p.His571Pro)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1802A>C (p.His601Pro)
NM_207122.2(EXT2):c.1806+3A>C
NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)
NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)
NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)
NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys) rs1240693088
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)
NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)
NM_207122.2(EXT2):c.785A>G (p.His262Arg) rs2135014871
NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.919G>C (p.Asp307His)

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