ClinVar Miner

List of variants in gene COL7A1 reported as not provided

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.3287T>A (p.Leu1096Gln) rs1474365354 0.00001
NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411 0.00001
NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln) rs147911102 0.00001
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2644T>C (p.Ser882Pro) rs2045438463
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg) rs121912841
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836

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