ClinVar Miner

Variants in gene COL7A1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.7068+5G>A rs779875751
NM_000094.4(COL7A1):c.8206G>A rs779942952

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