ClinVar Miner

List of variants in gene COL7A1 reported by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)	rs377182638	0.00001
NM_000094.4(COL7A1):c.548del (p.Leu183fs)
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter)	rs1368134215
NM_000094.4(COL7A1):c.7795-2A>G	rs2107637442

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