ClinVar Miner

List of variants studied for collagen 6-related myopathy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs) rs2106324972

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