ClinVar Miner

List of variants in gene COL7A1 studied for Abnormal blistering of the skin

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	rs780261665	0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	rs121912855	0.00001
NM_000094.4(COL7A1):c.5532+67A>G	rs1553856947

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