List of variants reported as uncertain significance for Angelman syndrome by Revvity Omics, Revvity

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_130839.5(UBE3A):c.512C>G (p.Thr171Ser)	rs1383474985	0.00001
NM_130839.5(UBE3A):c.2278C>T (p.Arg760Trp)
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)	rs374519603
NM_130839.5(UBE3A):c.2464A>T (p.Met822Leu)
NM_130839.5(UBE3A):c.278A>C (p.Tyr93Ser)	rs772952625
NM_130839.5(UBE3A):c.443G>A (p.Arg148His)	rs2080315079
NM_130839.5(UBE3A):c.630G>T (p.Arg210Ser)

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