List of variants in gene COL7A1 reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)	rs116005007	0.00425
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys)	rs147633212	0.00050
NM_000094.4(COL7A1):c.4585C>T (p.Arg1529Cys)	rs144557024	0.00034
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His)	rs150903058	0.00021
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr)	rs149342284	0.00019
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys)	rs2229820	0.00016
NM_000094.4(COL7A1):c.4889G>A (p.Arg1630Gln)	rs201196696	0.00011
NM_000094.4(COL7A1):c.2969G>A (p.Arg990Gln)	rs568498471	0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp)	rs147285396	0.00010
NM_000094.4(COL7A1):c.1268C>T (p.Pro423Leu)	rs147947287	0.00007
NM_000094.4(COL7A1):c.4000C>T (p.Arg1334Cys)	rs141720633	0.00007
NM_000094.4(COL7A1):c.3566T>C (p.Met1189Thr)	rs371470848	0.00006
NM_000094.4(COL7A1):c.6021C>A (p.Asp2007Glu)	rs199603961	0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys)	rs145729761	0.00006
NM_000094.4(COL7A1):c.3203G>A (p.Arg1068His)	rs753761607	0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln)	rs570707807	0.00004
NM_000094.4(COL7A1):c.4561G>C (p.Glu1521Gln)	rs373745858	0.00004
NM_000094.4(COL7A1):c.5929C>T (p.Arg1977Cys)	rs765130674	0.00004
NM_000094.4(COL7A1):c.6261C>A (p.Pro2087=)	rs761393259	0.00003
NM_000094.4(COL7A1):c.8289C>T (p.Gly2763=)	rs763764765	0.00003
NM_000094.4(COL7A1):c.3602G>A (p.Arg1201His)	rs189206728	0.00002
NM_000094.4(COL7A1):c.5951C>T (p.Ser1984Leu)	rs200551525	0.00002
NM_000094.4(COL7A1):c.302G>T (p.Gly101Val)	rs973642161	0.00001
NM_000094.4(COL7A1):c.4162C>T (p.Arg1388Cys)	rs565472139	0.00001
NM_000094.4(COL7A1):c.4278G>A (p.Pro1426=)	rs749738987	0.00001
NM_000094.4(COL7A1):c.5701G>A (p.Gly1901Ser)	rs762189891	0.00001
NM_000094.4(COL7A1):c.7334C>T (p.Pro2445Leu)	rs750113696	0.00001
NM_000094.4(COL7A1):c.2548G>A (p.Asp850Asn)	rs538387822
NM_000094.4(COL7A1):c.3039G>T (p.Gln1013His)	rs570498790
NM_000094.4(COL7A1):c.3826C>T (p.Leu1276Phe)	rs2045195228
NM_000094.4(COL7A1):c.4414C>A (p.Pro1472Thr)	rs775987562
NM_000094.4(COL7A1):c.4552A>G (p.Lys1518Glu)	rs2107720058

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