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: 24
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val) rs1381334911 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825 0.00001
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala) rs1057520568 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.8156G>C (p.Gly2719Ala) rs1164917118 0.00001
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr) rs749519562 0.00001
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.5924_5927del (p.Glu1975fs) rs1064797080
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu) rs200382597
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu) rs2107659875
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.4(COL7A1):c.6989G>A (p.Gly2330Asp)
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg) rs748466015
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.8786G>A (p.Cys2929Tyr)

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