ClinVar Miner

List of variants in gene MYF6 reported as uncertain significance for centronuclear myopathy

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_002469.3(MYF6):c.184G>A (p.Val62Ile) rs190471225 0.00019
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn) rs377370090 0.00016
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala) rs146824657 0.00011
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu) rs201098963 0.00007
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser) rs996997577 0.00004
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln) rs201273759 0.00002
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln) rs773695133 0.00002
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr) rs766941896 0.00002
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys) rs1346404270 0.00001
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser) rs1187510400 0.00001
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn) rs749523828 0.00001
NM_002469.3(MYF6):c.520-3C>T rs1035326012 0.00001
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter) rs779208935 0.00001
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro) rs1443837642 0.00001
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu) rs2121343603
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
NM_002469.3(MYF6):c.176A>T (p.Glu59Val) rs1332444958
NM_002469.3(MYF6):c.183T>G (p.His61Gln) rs776368255
NM_002469.3(MYF6):c.273dup (p.Thr92fs) rs768710318
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp) rs1188507871
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly) rs34563783
NM_002469.3(MYF6):c.459G>C (p.Gln153His) rs1868399214
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu) rs1013493242
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu) rs750182640
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly) rs1408693660

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.