ClinVar Miner

List of variants in gene combination LOC112272548, MTHFD1 reported as uncertain significance for combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Included ClinVar conditions (2):

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005956.4(MTHFD1):c.1265-4C>T	rs2078146524

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