ClinVar Miner

List of variants reported as pathogenic for Imerslund-Grasbeck syndrome type 1

Included ClinVar conditions (2):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177

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