ClinVar Miner

List of variants reported as likely pathogenic for megaloblastic anemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (12):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)	rs149266909	0.00116
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)	rs770921101
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)	rs765301342

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