List of variants in gene CBLIF reported as pathogenic for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005142.3(CBLIF):c.79+1G>A	rs147785187	0.00017
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)	rs121434322	0.00008
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs)	rs1590854624
NM_005142.3(CBLIF):c.161del (p.Asn54fs)	rs1590860794
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	rs765896727
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)
NM_005142.3(CBLIF):c.80-1G>A	rs1590860877

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