ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879

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