List of variants in gene COL7A1 reported as uncertain significance 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: 31

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HGVS	dbSNP	gnomAD frequency
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.3202C>T (p.Arg1068Cys)	rs142720855	0.00015
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)	rs775311082	0.00009
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg)	rs200235451	0.00009
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)	rs376502783	0.00007
NM_000094.4(COL7A1):c.6398T>C (p.Val2133Ala)	rs372838887	0.00006
NM_000094.4(COL7A1):c.3412G>A (p.Val1138Met)	rs145048666	0.00005
NM_000094.4(COL7A1):c.4970G>A (p.Arg1657His)	rs772510551	0.00004
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=)	rs369034739	0.00004
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile)	rs771521596	0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys)	rs779942952	0.00004
NM_000094.4(COL7A1):c.2794G>A (p.Val932Met)	rs761239910	0.00003
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)	rs775695539	0.00003
NM_000094.4(COL7A1):c.8054G>C (p.Arg2685Pro)	rs886058630	0.00003
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser)	rs745939385	0.00002
NM_000094.4(COL7A1):c.1568G>A (p.Arg523Gln)	rs749579224	0.00001
NM_000094.4(COL7A1):c.2451G>A (p.Met817Ile)	rs759047842	0.00001
NM_000094.4(COL7A1):c.3040C>T (p.Arg1014Trp)	rs1425170956	0.00001
NM_000094.4(COL7A1):c.3181G>A (p.Ala1061Thr)	rs778942747	0.00001
NM_000094.4(COL7A1):c.4264G>A (p.Glu1422Lys)	rs369814181	0.00001
NM_000094.4(COL7A1):c.469G>A (p.Asp157Asn)	rs767282486	0.00001
NM_000094.4(COL7A1):c.8357C>T (p.Thr2786Met)	rs758840116	0.00001
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr)	rs749519562	0.00001
NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys)	rs755464659	0.00001
NM_000094.4(COL7A1):c.2574TGT[1] (p.Val860del)	rs777669254
NM_000094.4(COL7A1):c.4031G>A (p.Gly1344Asp)	rs2045103432
NM_000094.4(COL7A1):c.4490G>T (p.Arg1497Leu)	rs749549271
NM_000094.4(COL7A1):c.5154+8G>A	rs1271996362
NM_000094.4(COL7A1):c.6216G>A (p.Gln2072=)	rs2530965631
NM_000094.4(COL7A1):c.7268A>G (p.Glu2423Gly)	rs2530870663

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