ClinVar Miner

List of variants reported as benign for inclusion body myopathy with Paget disease of bone and frontotemporal dementia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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_007126.5(VCP):c.*153G>T rs1053318 0.19091
NM_007126.5(VCP):c.*596C>T rs55745923 0.02117
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_007126.5(VCP):c.*906A>G rs76360394 0.00965
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_007126.5(VCP):c.*1001C>T rs192556285 0.00482
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
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_007126.5(VCP):c.-267C>T rs184152880 0.00252
NM_007126.5(VCP):c.79A>G (p.Ile27Val) rs140913250 0.00151
NM_007126.5(VCP):c.*12C>T rs62544156 0.00088
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_007126.5(VCP):c.832T>C (p.Leu278=) rs200670526 0.00040
NM_007126.5(VCP):c.2406T>C (p.Asp802=) rs145508640 0.00032
NM_007126.5(VCP):c.*15C>T rs762559031 0.00004
NM_007126.5(VCP):c.*438A>G rs137953487 0.00004
NM_007126.5(VCP):c.2214A>G (p.Glu738=) rs374391034 0.00002
NM_007126.5(VCP):c.812-7C>G rs764429197 0.00002

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