604391.G.2

Saudi Arabia

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Variant Name	Allele Count	Allele Frequency
NM_005591.4:c.630G>C	2	0.005

Two out of 428 phenotypically normal individuals (312 males; 116 females).

Related Subjects

Subject Id	Country	HPO Terms	Family History	Parental Consanguinity	Remarks
604391.G.1	Saudi Arabia	Ataxia; Oculomotor apraxia	Yes	Yes	10 patients (3 males; 7 females) from three unrelated families.

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