List of variants reported as likely pathogenic by Human Genetics Laboratory, Faculty of Medicine of Tunis

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001365088.1(SLC12A6):c.1591+3A>G	rs2140726249
NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs)	rs2104879312
NM_015202.5(KATNIP):c.2959del (p.Asp987fs)	rs770446723
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro)	rs863223396
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)	rs866551482

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