Table 3.

Tier 1 Variant Alleles

Gene	Allele	Allele functional status†	Defining functional variant	HGVS genomic nomenclature	HGVS cDNA nomenclature	HGVS protein nomenclature	Reference material available	Multiethnic allele frequency, %
CYP2C9‡	∗2	Decreased function	rs1799853	NG_008385.1: g.8633C>T	NM_000771.3: c.430C>T	p.Arg144Cys	Yes	0–12
CYP2C9‡	∗3	Decreased function	rs1057910	NG_008385.1: g.47639A>C	NM_000771.3: c.1075A>C	p.Ile359Leu	Yes	1–11
CYP2C9‡	∗5	Possibly decreased function	rs28371686	NG_008385.1: g.47644C>G	NM_000771.3: c.1080C>A	p.Asp360Glu	Yes	0–1
CYP2C9‡	∗6	No function	rs9332131	NG_008385.1: g.15626delA	NM_000771.3: c.818delA	p.Lys273fs	Yes	0–1
CYP2C9‡	∗8	Possibly decreased function	rs7900194	NG_008385.1: g.8652G>A	NM_000771.3: c.449G>A	p.Arg150His	Yes	0–5
CYP2C9‡	∗11	Possibly decreased function	rs28371685	NG_008385.1: g.47567C>T	NM_000771.3: c.1003C>T	p.Arg335Trp	Yes	0–2
VKORC1	c.-1639G>A	Decreased gene expression	rs9923231	NG_011564.1: g.3588G>A	NM_024006.5: c.-1639G>A	N/A	Yes	10–88

HGVS, Human Genome Variation Society.

^†Citations for assignment of function can be found at https://www.pharmvar.org (last accessed July 11, 2019).

^‡Included for completeness,⁴ HGVS nomenclature (https://www.ncbi.nlm.nih.gov/snp, last accessed July 11, 2019).