List of variants reported as uncertain significance for Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)	rs34181110	0.00189
NM_005956.4(MTHFD1):c.1171A>G (p.Ile391Val)	rs527485062	0.00004
NM_005956.4(MTHFD1):c.1265-4C>T	rs2078146524
NM_005956.4(MTHFD1):c.1493A>C (p.Lys498Thr)	rs864309594
NM_005956.4(MTHFD1):c.1843_1844dup (p.Met615fs)	rs2550504616
NM_005956.4(MTHFD1):c.240+9T>C	rs1031056604
NM_005956.4(MTHFD1):c.881T>C (p.Phe294Ser)	rs2550501114

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