Gene/Locus

Variant/Allele

Clinical implication

SEA AF (%)

HiFi value

HBA1/HBA2

–SEA, –α3.7, –α4.2

α-thalassemia

5–40

Resolves segdup; SV native

HBB

Codon 41/42, IVS1-1, HbE

β-thalassemia, HbE

1–9 (HbE up to 60)

Direct phasing

G6PD

Mahidol, Viangchan, Mediterranean

Hemolysis risk

3–15

Pan-allele detection

HLA-B

*15:02

Carbamazepine SJS/TEN

5–15

StarPhase 4-field

HLA-B

*58:01

Allopurinol SCAR

5–15

StarPhase 4-field

NUDT15

*3 (c.415C>T)

Thiopurine toxicity

5–10

Direct call

CYP2C19

*2, *3

Clopidogrel, PPI

10–35

StarPhase diplotype

NAT2

Slow acetylator

Isoniazid hepatotoxicity

30–60

Direct phasing

ATXN3

CAG expansion

SCA3 (Machado–Joseph)

Variable

TRGT sizing

NOTCH2NLC

GGC expansion

NIID

Variable

GC-rich, HiFi essential

SAMD12

TTTCA/TTTTA

BAFME-1

Variable

Intronic, HiFi essential