ClinVar Miner

List of variants studied for vitamin B deficiency by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597 0.00016
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.349C>A (p.Leu117Met) rs1588661287
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr) rs1588604587
NM_001081.4(CUBN):c.489+2_489+4dup rs1588658746
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687

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.