Table 2.

Autosomal recessive genes for screening with carrier frequency <1/50 to ≥1/100.

OMIM gene	OMIM gene name	Maximum carrier frequencya	OMIM phenotype	Conditions
610142	CEP290	0.014422	610188	Joubert syndrome 5
			611755	Leber congenital amaurosis 10
607839	GBE1	0.013799	232500	Glycogen storage disease, type IV
			263570	GBE1-related disorders
606800	GAA	0.013565	232300	Glycogen storage disease, type II (Pompe disease)
100725	CHRNE	0.013526	100725	Myasthenic syndrome, congenital, 4A, slow-channel Myasthenic syndrome, congenital, 4B, fast-channel
613742	G6PC	0.013401	232200	Glycogen storage disease type IA
611409	OCA2	0.013113	203200	Oculocutaneous albinism brown and type II
120120	COL7A1	0.012995	226600	Recessive dystrophic epidermolysis bullosa
600509	ABCC8	0.012242	618857	Diabetes mellitus, permanent neonatal 3
612724	ALDOB	0.012119	229600	Hereditary fructosuria
613899	FANCC	0.011992	227645	Fanconi anemia, complementation group C
604597	GRIP1	0.011989	617667	Fraser syndrome
248611	BCKDHB	0.011760	245600	Maple syrup urine disease
613726	ANO10	0.010781	613728	Spinocerebellar ataxia 10
104170	NAGA	0.010637	609241	Schindler disease, type 1
				Schindler disease, type 3
607608	SMPD1	0.010259	257200	Niemann–Pick disease, type A
			607616	Niemann–Pick disease, type B
608400	USH2A	0.010203	276901	Usher syndrome, type 2A
609058	MMUT	0.009999	251000	Methylmalonic aciduria–methylmalonyl–CoA mutase deficiency
600650	CPT2	0.009742	600649	Carnitine palmitoyltransferase II deficiency, infantile
			608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal
608894	AHI1	0.009740	608629	Joubert syndrome 3

OMIM Online Mendelian Inheritance in Man.⁵⁵

^aAfter rounding values are < 0.02 and ≥ 0.01 (two decimal places).