ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 114
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HGVS dbSNP
NC_000003.11:g.(?_48601829)_(48632780_?)del
NC_000003.11:g.(?_48602206)_(48617500_?)del
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803
NM_000094.3(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665
NM_000094.3(COL7A1):c.2318_2321dup (p.Glu774delinsAspTer) rs1064797079
NM_000094.3(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.3(COL7A1):c.3515_3524dup (p.Ser1175fs) rs1575472776
NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.3(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.3(COL7A1):c.5015del (p.Lys1672fs) rs1064793499
NM_000094.3(COL7A1):c.5048_5051dup (p.Asn1684fs) rs1276678432
NM_000094.3(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902
NM_000094.3(COL7A1):c.5344G>T (p.Gly1782Ter) rs374718902
NM_000094.3(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.3(COL7A1):c.5767del (p.Glu1923fs) rs1575442816
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.3(COL7A1):c.6081del (p.Pro2029fs) rs780623622
NM_000094.3(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838
NM_000094.3(COL7A1):c.6656dup (p.Thr2220fs) rs757406252
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.7012C>T (p.Arg2338Ter) rs745874032
NM_000094.3(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411
NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) rs201728948
NM_000094.3(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.3(COL7A1):c.7462C>T (p.Gln2488Ter) rs1553851245
NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216
NM_000094.3(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.3(COL7A1):c.8272del (p.Val2758fs) rs1553849789
NM_000094.3(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874
NM_000094.4(COL7A1):c.1045_1046del (p.Ser349fs)
NM_000094.4(COL7A1):c.105C>A (p.Tyr35Ter)
NM_000094.4(COL7A1):c.1474_1505del (p.Glu492fs)
NM_000094.4(COL7A1):c.1564C>T (p.Gln522Ter)
NM_000094.4(COL7A1):c.1573C>T rs368007918
NM_000094.4(COL7A1):c.1589del (p.Pro530fs)
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter)
NM_000094.4(COL7A1):c.1953_1954dup (p.Ile652fs)
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs)
NM_000094.4(COL7A1):c.2463dup (p.Leu822fs)
NM_000094.4(COL7A1):c.2527C>T (p.Arg843Ter)
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)
NM_000094.4(COL7A1):c.3170_3173del (p.Phe1057fs)
NM_000094.4(COL7A1):c.3310delinsAA (p.Pro1104fs)
NM_000094.4(COL7A1):c.3437T>A (p.Leu1146Ter)
NM_000094.4(COL7A1):c.3473del (p.Pro1158fs)
NM_000094.4(COL7A1):c.3702T>A (p.Cys1234Ter)
NM_000094.4(COL7A1):c.3830del (p.Pro1277fs)
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)
NM_000094.4(COL7A1):c.4128delT rs1575466699
NM_000094.4(COL7A1):c.4184del (p.Gly1395fs)
NM_000094.4(COL7A1):c.4322del (p.Pro1441fs)
NM_000094.4(COL7A1):c.4478del (p.Glu1493fs)
NM_000094.4(COL7A1):c.4531_4564-42del
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter)
NM_000094.4(COL7A1):c.4603G>T (p.Glu1535Ter)
NM_000094.4(COL7A1):c.4621del (p.Asp1541fs)
NM_000094.4(COL7A1):c.4783-1G>A
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)
NM_000094.4(COL7A1):c.497dupA rs766902987
NM_000094.4(COL7A1):c.4980+1G>T
NM_000094.4(COL7A1):c.5047C>T rs760063197
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs)
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter)
NM_000094.4(COL7A1):c.5531dup (p.Asn1844fs)
NM_000094.4(COL7A1):c.553C>T rs886041186
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter)
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.6014_6021delinsGGG (p.Lys2005fs)
NM_000094.4(COL7A1):c.6022C>G (p.Arg2008Gly)
NM_000094.4(COL7A1):c.6022C>T rs1055680335
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6082G>A rs762162799
NM_000094.4(COL7A1):c.6187C>T rs121912849
NM_000094.4(COL7A1):c.6193_6196del (p.Glu2065fs)
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6245del (p.Gly2082fs)
NM_000094.4(COL7A1):c.6343del (p.Ala2115fs)
NM_000094.4(COL7A1):c.639del (p.Arg214fs)
NM_000094.4(COL7A1):c.6501+1G>C
NM_000094.4(COL7A1):c.6501G>A rs767539005
NM_000094.4(COL7A1):c.6508C>T (p.Gln2170Ter)
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.6528del (p.Gly2177fs)
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs)
NM_000094.4(COL7A1):c.6745C>T (p.Gln2249Ter)
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter)
NM_000094.4(COL7A1):c.7023+1G>A
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.7289dup (p.Gly2431fs)
NM_000094.4(COL7A1):c.7802del (p.Pro2601fs)
NM_000094.4(COL7A1):c.7864C>T rs139318843
NM_000094.4(COL7A1):c.8030del (p.Gly2677fs)
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser)
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter)
NM_000094.4(COL7A1):c.8212_8224del (p.Leu2738fs)
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter)
NM_000094.4(COL7A1):c.8244dup (p.Gly2749fs)
NM_000094.4(COL7A1):c.8253_8254dup (p.Val2752fs)
NM_000094.4(COL7A1):c.8263del (p.Ala2755fs)
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser)
NM_000094.4(COL7A1):c.8371del (p.Arg2791fs)
NM_000094.4(COL7A1):c.8457T>G (p.Tyr2819Ter)
NM_000094.4(COL7A1):c.8540_8541del (p.Pro2847fs)
NM_000094.4(COL7A1):c.8558_8568del (p.Tyr2852_Ser2853insTer)
NM_000094.4(COL7A1):c.8584G>T (p.Glu2862Ter)
NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter)
NM_000094.4(COL7A1):c.887delG rs1131691385

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