List of variants reported as likely pathogenic for Angelman syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000015.10:g.(?_24566038)_(25781223_?)dup
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)	rs1064795012
NM_130839.5(UBE3A):c.2124+1G>T	rs2152693602
NM_130839.5(UBE3A):c.2265_2267dup (p.Ile756dup)	rs2152683847
NM_130839.5(UBE3A):c.238T>C (p.Cys80Arg)	rs2152848080
NM_130839.5(UBE3A):c.2406_2414del (p.Leu803_Phe805del)	rs1555380809
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu)	rs587781239
NM_130839.5(UBE3A):c.2600_2604dup (p.Phe869fs)	rs2074288628
NM_130839.5(UBE3A):c.449T>C (p.Ile150Thr)	rs111033597
NM_130839.5(UBE3A):c.854T>C (p.Ile285Thr)	rs1566959617

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