ClinVar Miner

List of variants reported as pathogenic for Imerslund-Gräsbeck syndrome by Invitae

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Total variants: 14
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HGVS dbSNP
NC_000014.9:g.(?_102870182)_(102930700_?)del
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) rs137998687
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)
NM_030943.4(AMN):c.791dup (p.Phe265fs)

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