List of variants in gene COL7A1 reported as likely benign by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)	rs35899847	0.00343
NM_000094.4(COL7A1):c.5154+5T>C	rs2854400	0.00317
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)	rs2228563	0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	rs35623035	0.00285
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	rs146901730	0.00220
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)	rs141290741	0.00212
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)	rs139521707	0.00121
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)	rs150776274	0.00055
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)	rs143352280	0.00016

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