List of variants reported as pathogenic by Genetics Department, Hospital Ramon y Cajal-IRYCIS

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg)	rs370457498	0.00002
NM_001042702.5(PJVK):c.880C>G (p.His294Asp)	rs2154126353
NM_001042702.5(PJVK):c.880del (p.His294fs)	rs2154126352
NM_001042702.5(PJVK):c.950del (p.Phe317fs)	rs2154126361
NM_004839.4(HOMER2):c.799_803del (p.Pro267fs)	rs2051382999
NM_178335.3(CCDC50):c.1356_1386del (p.Asp452fs)	rs2108677025

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