ClinVar Miner

List of variants reported as benign for inclusion body myopathy with Paget disease of bone and frontotemporal dementia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_002137.4(HNRNPA2B1):c.519A>G (p.Arg173=) rs34317198 0.04885
NM_002137.4(HNRNPA2B1):c.117+4T>C rs41275982 0.03091
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_002137.4(HNRNPA2B1):c.841+6A>G rs144309126 0.00625
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=) rs117082250 0.00481
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_002137.4(HNRNPA2B1):c.721+19T>C rs183451681 0.00296
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_007126.5(VCP):c.927C>T (p.Ile309=) rs34097935 0.00270
NM_002137.4(HNRNPA2B1):c.288T>C (p.His96=) rs142061533 0.00214
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_002137.4(HNRNPA2B1):c.658+18C>T rs200943057 0.00103
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_002137.4(HNRNPA2B1):c.964+10A>G rs181705411 0.00058
NM_002137.4(HNRNPA2B1):c.117+13C>T rs201523113 0.00052
NM_002137.4(HNRNPA2B1):c.243A>G (p.Pro81=) rs143134057 0.00043
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_002137.4(HNRNPA2B1):c.906T>A (p.Gly302=) rs139270847 0.00037
NM_007126.5(VCP):c.1482+18A>G rs370501665 0.00024
NM_007126.5(VCP):c.2193C>T (p.Ile731=) rs186657793 0.00017
NM_007126.5(VCP):c.1875G>T (p.Arg625=) rs201410035 0.00009
NM_007126.5(VCP):c.2229G>A (p.Ala743=) rs200767982 0.00009
NM_002137.4(HNRNPA2B1):c.475+9C>T rs199612730 0.00006
NM_002137.4(HNRNPA2B1):c.659-19T>C rs781454007 0.00004
NM_007126.5(VCP):c.54A>G (p.Lys18=) rs766042571 0.00003
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002
NM_007126.5(VCP):c.1407A>G (p.Val469=) rs761430933 0.00001
NM_007126.5(VCP):c.2160+8T>G rs564249854 0.00001
NM_007126.5(VCP):c.465T>G (p.Arg155=) rs765140312 0.00001
NM_002137.4(HNRNPA2B1):c.476-16G>A rs546524344
NM_002137.4(HNRNPA2B1):c.659-13del
NM_002137.4(HNRNPA2B1):c.659-13dup rs754016775
NM_002137.4(HNRNPA2B1):c.659-14_659-13del rs754016775
NM_002137.4(HNRNPA2B1):c.659-7C>G rs199606705
NM_002137.4(HNRNPA2B1):c.7-137del rs759915055
NM_002137.4(HNRNPA2B1):c.7-143del rs57800062
NM_002137.4(HNRNPA2B1):c.7-143dup
NM_002137.4(HNRNPA2B1):c.7-145_7-143del
NM_002137.4(HNRNPA2B1):c.842-11dup rs1465279377
NM_007126.5(VCP):c.1082-18_1082-8dup rs11272867

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.