List of variants in gene COL7A1 reported 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
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.8359-19T>C	rs78922394	0.02970
NM_000094.4(COL7A1):c.2314+15G>A	rs144483183	0.02210
NM_000094.4(COL7A1):c.3975+11C>T	rs7637885	0.01719
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)	rs61729223	0.01181
NM_000094.4(COL7A1):c.4483-11T>C	rs74390291	0.00777
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	rs116005007	0.00425
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	0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)	rs35623035	0.00276
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)	rs141290741	0.00212
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)	rs146901730	0.00210
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.1348C>T (p.Arg450Cys)	rs139434755	0.00026
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)	rs143352280	0.00016

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