ClinVar Miner

List of variants in gene combination COL7A1, MIR711 reported as likely benign by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.5424C>T (p.Asp1808=) rs755720544 0.00083
NM_000094.4(COL7A1):c.5400C>A (p.Gly1800=) rs868485210 0.00001
NM_000094.4(COL7A1):c.5424+10G>C rs1266122437 0.00001
NM_000094.4(COL7A1):c.5389-15del rs1285813682
NM_000094.4(COL7A1):c.5389-8C>G
NM_000094.4(COL7A1):c.5403A>G (p.Lys1801=) rs1575449774
NM_000094.4(COL7A1):c.5409G>A (p.Gly1803=) rs1435271519
NM_000094.4(COL7A1):c.5409G>T (p.Gly1803=)
NM_000094.4(COL7A1):c.5415A>C (p.Pro1805=) rs2107694706
NM_000094.4(COL7A1):c.5424+11G>C
NM_000094.4(COL7A1):c.5424+7G>A
NM_000094.4(COL7A1):c.5424+7G>T rs1460635782
NM_000094.4(COL7A1):c.5424+8A>T
NM_000094.4(COL7A1):c.5424+9G>A rs2107694520

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