ClinVar Miner

List of variants studied for myoclonus-dystonia syndrome by Revvity Omics, Revvity

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys) rs199871508 0.00012
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile) rs762287154 0.00012
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys) rs375983969 0.00006
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) rs200035109 0.00004
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser) rs553677309 0.00003
NM_003919.3(SGCE):c.1036G>A (p.Val346Met) rs533652380 0.00003
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln) rs148483382 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00002
NM_003919.3(SGCE):c.1065-3T>C rs965437968 0.00001
NM_003919.3(SGCE):c.232+4T>C rs372244157 0.00001
NM_003919.3(SGCE):c.597A>G (p.Ile199Met) rs777920643 0.00001
NM_003919.3(SGCE):c.617A>G (p.Asp206Gly) rs727504150 0.00001
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn) rs781326840 0.00001
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser) rs757835571 0.00001
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)
NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr)
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
NM_003919.3(SGCE):c.109+1G>A rs1808615750
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg) rs370800943
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr) rs1023091295
NM_003919.3(SGCE):c.1296dup (p.Gly433fs) rs2116568066
NM_003919.3(SGCE):c.21G>C (p.Trp7Cys)
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu) rs2116959049
NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter) rs766778442
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)
NM_003919.3(SGCE):c.521T>C (p.Met174Thr)
NM_003919.3(SGCE):c.788G>A (p.Arg263His) rs375899729
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)
NM_003919.3(SGCE):c.934G>A (p.Asp312Asn)

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.