List of variants reported as likely pathogenic by Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn)	rs754079962	0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met)	rs773159585	0.00001
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)	rs1131691643
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	rs764282256
NM_006929.5(SKIC2):c.1404-2A>G	rs1772611373
NM_006929.5(SKIC2):c.1647+1G>A	rs1772638226
NM_016138.5(COQ7):c.599_600delinsTAATGCATC (p.Lys200fs)	rs1962955145
NM_017799.4(TMEM260):c.1744G>C (p.Glu582Gln)	rs761443112

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