List of variants reported as uncertain significance for CEBALID syndrome

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002430.3(MN1):c.2006C>G (p.Pro669Arg)	rs1204277623	0.00001
NM_002430.3(MN1):c.2116C>A (p.Leu706Met)	rs1432467365	0.00001
NM_002430.3(MN1):c.2783C>T (p.Ser928Leu)	rs746306235	0.00001
NM_002430.3(MN1):c.1605_1631del (p.Gln542_Gln550del)	rs759786990
NM_002430.3(MN1):c.1915C>A (p.Pro639Thr)	rs1933357660
NM_002430.3(MN1):c.2146G>A (p.Gly716Arg)	rs1247151797
NM_002430.3(MN1):c.2211G>A (p.Thr737=)	rs1210433639
NM_002430.3(MN1):c.2287G>A (p.Val763Met)	rs756889884
NM_002430.3(MN1):c.2612C>T (p.Ala871Val)	rs776690759
NM_002430.3(MN1):c.3665A>T (p.Glu1222Val)	rs2517769871
NM_002430.3(MN1):c.704del (p.Tyr235fs)	rs2517774070
NM_002430.3(MN1):c.912GCA[4] (p.Gln308_Gln309del)
NM_002430.3(MN1):c.912GCA[9] (p.Gln309_His310insGlnGlnGln)	rs747503495

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