List of variants reported as pathogenic by MedGen Diagnostic Laboratory, MedGen Medical Centre

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000049.4(ASPA):c.744+1G>A	rs2073877472
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Arg121_Asp122insAlaArgHisArg)	rs1592047560
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481
NM_007347.5(AP4E1):c.942_943+3delinsCC	rs2141164878
NM_013275.6(ANKRD11):c.5117del (p.Pro1706fs)	rs2151746362

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