ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of cobalamin metabolism and transport by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (23):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)	rs143899993	0.00026
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)	rs1582168492

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