ClinVar Miner

List of variants studied for megaloblastic anemia by Mendelics

Included ClinVar conditions (12):

Cobalamin deficiency; Megaloblastic anemia
Congenital defect of folate absorption
Constitutional megaloblastic anemia with severe neurologic disease
Glutamate formiminotransferase deficiency
Hereditary orotic aciduria
Imerslund-Grasbeck syndrome
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign
Imerslund-Grasbeck syndrome type 2
Megaloblastic anemia
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Oroticaciduria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	rs370778353	0.00009
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu)	rs1588623316
NM_206965.2(FTCD):c.990dup (p.Pro331fs)	rs398124234

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