ClinVar Miner

List of variants studied for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.6257A>C (p.Lys2086Thr) rs142934543 0.00094
NM_005559.4(LAMA1):c.3687+4A>C rs7226848 0.00039
NM_005559.4(LAMA1):c.415C>T (p.Arg139Cys) rs199854892 0.00015
NM_005559.4(LAMA1):c.858+1G>T rs141914419 0.00012
NM_005559.4(LAMA1):c.8962C>T (p.Arg2988Cys) rs138692442 0.00009
NM_005559.4(LAMA1):c.2344C>T (p.Arg782Ter) rs374851540 0.00003
NM_005559.4(LAMA1):c.3391G>A (p.Glu1131Lys) rs773505947 0.00001
NM_005559.4(LAMA1):c.1653G>C (p.Gln551His)
NM_005559.4(LAMA1):c.2135C>T (p.Pro712Leu)
NM_005559.4(LAMA1):c.242C>A (p.Pro81Gln)
NM_005559.4(LAMA1):c.2480G>A (p.Trp827Ter) rs2144143962
NM_005559.4(LAMA1):c.2700C>T (p.Arg900=)
NM_005559.4(LAMA1):c.2879C>T (p.Ser960Leu)
NM_005559.4(LAMA1):c.5071A>G (p.Thr1691Ala)
NM_005559.4(LAMA1):c.5171C>A (p.Ala1724Asp)
NM_005559.4(LAMA1):c.5512C>T (p.Gln1838Ter) rs376548651
NM_005559.4(LAMA1):c.5873T>G (p.Leu1958Arg)
NM_005559.4(LAMA1):c.6145A>G (p.Thr2049Ala)
NM_005559.4(LAMA1):c.6489+1G>C rs2144036802
NM_005559.4(LAMA1):c.7430T>C (p.Val2477Ala)
NM_005559.4(LAMA1):c.8282C>T (p.Ala2761Val)
NM_005559.4(LAMA1):c.8825T>C (p.Leu2942Pro)
NM_005559.4(LAMA1):c.9068C>A (p.Ala3023Asp)

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.