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. 2019 Sep;21(5):746–755. doi: 10.1016/j.jmoldx.2019.04.003

Table 3.

CYP2C9 Tier 1 Variant Alleles

Allele Allele functional status Defining functional variant HGVS nomenclature: NM_000771.3 HGVS nomenclature: NG_008385.1 Reference material available§ Multiethnic allele frequency
*2 Decreased function rs1799853 c.430C>T, p.Arg144Cys g.8633C>T Yes 0%–12%
*3 Decreased function rs1057910 c.1075A>C, p.Ile359Leu g.47639A>C Yes 1%–11%
*5 Decreased function rs28371686 c.1080C>G, p.Asp360Glu g.47644C>G Yes 0%–1%
*6 No function rs9332131 c.818del, p.Lys273Argfs*34 g.15625delA Yes 0%–1%
*8 Decreased function rs7900194 c.449G>A, p.Arg150His g.8652G>A Yes 0%–5%
*11 Decreased function rs28371685 c.1003C>T, p.Arg335Trp g.47567C>T Yes 0%–2%

HGVS, Human Genome Variation Society.

Citations for assignment of function can be found at https://www.pharmvar.org/gene/CYP2C9 (last accessed August 15, 2018).

CYP2C9 RefSeqGene.

§

Table 2.

Note that the defining variant of the *35 allele (c.374G>T, p.Arg125Leu) is likely in linkage disequilibrium with the defining *2 variant (c.430C>T, p.Arg144Cys)).

Note that the defining *18 variant of the allele (c.1190A>C, p.Asp397Ala, rs72558193) is likely in linkage disequilibrium with the defining variant of *3 variant (c.1075A>C, p.Ile359Leu, rs1057910).