ClinVar Miner

List of variants in gene COL6A3 reported as likely pathogenic by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.238258810delG rs794729205
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615

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