ClinVar Miner

List of variants studied for Megaloblastic anemia by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.*162G>A rs558891678 0.00015
NM_001081.4(CUBN):c.1110A>C (p.Leu370=) rs886046878
NM_001081.4(CUBN):c.2446+14_2446+15del rs752528712
NM_001081.4(CUBN):c.3008+9_3008+12dup rs772081536
NM_001081.4(CUBN):c.7352-7A>C rs886046869
NM_001081.4(CUBN):c.8062+5G>A rs886046866

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