Table 5.

Genes that were ascertained for screening outside of the gnomAD criteria^a.

OMIM gene	OMIM gene name	Published carrier frequencyb	Rationale for inclusion	Ethnic group	OMIM phenotype	Conditions
141800	HBA1	Uc	Carrier frequency	SEA and others	604131	α-Thalassemia
141850	HBA2	Uc	Carrier frequency	SEA and others	604131	α-Thalassemia
600354	SMN1	1/6018	ACOG/ACMG and carrier frequency	US panethnic	253300
					253550	Spinal muscular
					253400	atrophy types: I, II, III, IV
					271150
604982	HPS1	1/5956-58	Carrier frequency	PR	203300	Hermansky Pudlak S. 1
606118	HPS3	1/5956	Carrier frequency	PR	614072	Hermansky Pudlak S. 3
603722	ELP1	1/3259	ACOG/ACMG and carrier frequency	AJ	223900	Familial dysautonomia
606829	FXN	1/60–1/10060	Carrier frequency	Caucasiansd	229300	Friedreich ataxia
238331	DLD	~1/10059,61	Carrier frequency	AJ	246900	Dihydrolipoamide dehydrogenase deficiency
161650	NEB	1/16859	Carrier frequency	AJ	256030	Nemaline myopathy 2
606397	CLRN1	1/12059	Carrier frequency	AJ	276902	Usher syndrome 3a
604610	BLM	1/10059	ACMG and carrier frequency	AJ	210900	Bloom syndrome

ACMG American College of Medical Genetics and Genomics, ACOG American College of Obstetricians and Gynecologists, AJ Ashkenazi Jewish (≥2% of the US population), OMIM Online Mendelian Inheritance in Man,⁵⁵ PR Puerto Rican, SEA South East Asian.

^aCarrier frequency of a sequence variant is <1/200, if reported in gnomAD.⁵⁰

^bDiagnostic laboratory data was not used for carrier frequency data.

^cSpecific data for general US population not available; however, recognized as common among many US immigrant populations.⁶²

^dThis term is no longer used by the journal but is used in the original article to which these studies refer. We have therefore not changed the term but recognize it does not accurately describe the ancestry of the populations originally studied.⁴⁶