ClinVar Miner

List of variants reported as likely benign for Imerslund-Gräsbeck syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179
NM_001081.4(CUBN):c.349-8A>G rs188559699
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=) rs1588515934
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg) rs141489700
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe) rs141819241
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=) rs201002903
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=) rs1199891308
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064
NM_030943.4(AMN):c.123C>G (p.Thr41=) rs758005290
NM_030943.4(AMN):c.1348_1353GAGGCC[3] (p.450_451EA[3]) rs763564473
NM_030943.4(AMN):c.492C>G (p.Arg164=) rs1388154450
NM_030943.4(AMN):c.57G>T (p.Ala19=) rs145328398
NM_030943.4(AMN):c.773T>C (p.Leu258Ser) rs190222721
NM_030943.4(AMN):c.835C>T (p.Leu279=) rs371426960
NM_030943.4(AMN):c.843+11del rs1467152225

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.