List of variants in gene COL7A1 reported as benign by GeneDx

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: 35

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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.8620+23G>A	rs41290684	0.48002
NM_000094.4(COL7A1):c.3139+12G>A	rs2255532	0.46226
NM_000094.4(COL7A1):c.8408-125_8408-122dup	rs3832252	0.15278
NM_000094.4(COL7A1):c.5821-61C>T	rs9881877	0.15135
NM_000094.4(COL7A1):c.7164+28A>G	rs9878950	0.14872
NM_000094.4(COL7A1):c.4899+27T>C	rs1003649	0.14593
NM_000094.4(COL7A1):c.7759-98C>A	rs2532848	0.12389
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu)	rs2228561	0.09897
NM_000094.4(COL7A1):c.7522-49T>C	rs6781283	0.08659
NM_000094.4(COL7A1):c.6618+21A>G	rs9814951	0.06795
NM_000094.4(COL7A1):c.6279+26C>T	rs76140443	0.05953
NM_000094.4(COL7A1):c.8305-20G>C	rs17256786	0.05213
NM_000094.4(COL7A1):c.8304+34C>T	rs41290686	0.05173
NM_000094.4(COL7A1):c.1358-25C>T	rs72925275	0.04358
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu)	rs35761247	0.03954
NM_000094.4(COL7A1):c.2587+28C>T	rs76683871	0.02616
NM_000094.4(COL7A1):c.2314+15G>A	rs144483183	0.02210
NM_000094.4(COL7A1):c.6715-18C>T	rs13325221	0.01922
NM_000094.4(COL7A1):c.3895-155C>T	rs113845991	0.01787
NM_000094.4(COL7A1):c.-57T>G	rs115744844	0.01649
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile)	rs74453879	0.01453
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)	rs61729223	0.01181
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.5910C>T (p.Phe1970=)	rs141290741	0.00212
NM_000094.4(COL7A1):c.2050+16C>T	rs749425003	0.00001
NM_000094.4(COL7A1):c.4818+18T>A	rs368227259	0.00001
NM_000094.4(COL7A1):c.2710+35T>G	rs28581474
NM_000094.4(COL7A1):c.5424+61C>T	rs73078310
NM_000094.4(COL7A1):c.6216+37G>A	rs2107672377
NM_000094.4(COL7A1):c.7984-7del	rs66737445
NM_000094.4(COL7A1):c.8408-125_8408-123del	rs2107628989
NM_000094.4(COL7A1):c.8408-125_8408-124insCTGT	rs2107629019
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC	rs138595277

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