ClinVar Miner

List of variants reported as likely pathogenic for megaloblastic anemia by Neuberg Centre For Genomic Medicine, NCGM

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.4351-1G>C
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
NM_030943.4(AMN):c.208-1G>C	rs386834169
NM_080669.6(SLC46A1):c.138T>A (p.Tyr46Ter)

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