ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of cobalamin metabolism and transport by Mendelics

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) rs1588623316
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854

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