List of variants reported as pathogenic by Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	rs398124401	0.00001
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)	rs398122394
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	rs760866131
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)	rs794727931

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