List of variants in gene COL7A1 reported as benign by PreventionGenetics, part of Exact Sciences

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=)	rs1264194	0.74947
NM_000094.4(COL7A1):c.3139+12G>A	rs2255532	0.46226
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)	rs2228561	0.09897
NM_000094.4(COL7A1):c.8305-20G>C	rs17256786	0.05213
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)	rs35761247	0.03954
NM_000094.4(COL7A1):c.2314+15G>A	rs144483183	0.02210
NM_000094.4(COL7A1):c.4483-11T>C	rs74390291	0.00781
NM_000094.4(COL7A1):c.5590G>A (p.Ala1864Thr)	rs17080261	0.00636
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu)	rs2229822	0.00472
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His)	rs2229824	0.00408
NM_000094.4(COL7A1):c.1628G>A (p.Ser543Asn)	rs76410546	0.00401
NM_000094.4(COL7A1):c.5307+7G>C	rs116455408	0.00347
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.5343C>T (p.Ser1781=)	rs147919436	0.00057
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His)	rs139014122	0.00057
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu)	rs200473808	0.00010

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