List of variants reported as pathogenic by Institute of Experimental Medicine, Department of Genetics, Istanbul University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_014489.4(PGAP2):c.646G>A (p.Gly216Arg)	rs1064797152	0.00001
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser)	rs869025201
NM_014489.4(PGAP2):c.530A>G (p.Asn177Ser)	rs377757894
NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro)	rs774843232
NM_182961.4(SYNE1):c.13299del (p.His4433fs)	rs1563130387

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