ClinVar Miner

List of variants reported as pathogenic for hereditary intrinsic factor deficiency by Invitae

Included ClinVar conditions (1):

Hereditary intrinsic factor deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005142.3(CBLIF):c.79+1G>A	rs147785187	0.00017
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	rs765896727
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)

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