ClinVar Miner

List of variants studied for inborn disorder of cobalamin metabolism and transport by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786

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