List of variants reported as pathogenic by Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000156.6(GAMT):c.327G>A (p.Lys109=)	rs80338735	0.00017
NM_003124.5(SPR):c.655C>T (p.Arg219Ter)	rs779204655	0.00001
NC_000007.14:g.73773313_74086695del
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)	rs1057519528
NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter)	rs2044215489
NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs)	rs1833598892
NM_001348768.2(HECW2):c.3587A>G (p.Lys1196Arg)	rs1688479620
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)	rs121909574
NM_006031.6(PCNT):c.2407C>T (p.Gln803Ter)	rs1569201595
NM_006766.5(KAT6A):c.3039+1G>A	rs1554681382
NM_012293.3(PXDN):c.2098G>T (p.Gly700Ter)	rs1683063437
NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)	rs749603354
NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)	rs1766794792
NM_032888.4(COL27A1):c.2405G>A (p.Gly802Glu)	rs1830954329
NM_130839.5(UBE3A):c.2410C>T (p.Gln804Ter)	rs2074504404

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