ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00141
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00008
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.7344G>A (p.Val2448=) rs201728948 0.00006
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=) rs758886532 0.00003
NM_000094.4(COL7A1):c.6501+1G>C rs759644973 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000094.4(COL7A1):c.7344+1G>T rs754469339 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg) rs146234310 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000094.4(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153 0.00002
NM_000094.4(COL7A1):c.7012C>T (p.Arg2338Ter) rs745874032 0.00002
NM_000094.4(COL7A1):c.7462C>T (p.Gln2488Ter) rs1553851245 0.00002
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.2587+40G>A rs1158768165 0.00001
NM_000094.4(COL7A1):c.2710+2T>C rs1553613528 0.00001
NM_000094.4(COL7A1):c.3140-1G>A rs886041187 0.00001
NM_000094.4(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386 0.00001
NM_000094.4(COL7A1):c.3971del (p.Leu1324fs) rs886044621 0.00001
NM_000094.4(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904 0.00001
NM_000094.4(COL7A1):c.4448G>A (p.Gly1483Asp) rs756217590 0.00001
NM_000094.4(COL7A1):c.4484G>T (p.Gly1495Val) rs1381334911 0.00001
NM_000094.4(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847 0.00001
NM_000094.4(COL7A1):c.4894C>T (p.Arg1632Ter) rs751535193 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5048_5051dup (p.Asn1684fs) rs1276678432 0.00001
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu) rs770304825 0.00001
NM_000094.4(COL7A1):c.5173G>A (p.Gly1725Arg) rs772195825 0.00001
NM_000094.4(COL7A1):c.5291G>C (p.Gly1764Ala) rs1057520568 0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902 0.00001
NM_000094.4(COL7A1):c.5532+5G>A rs1210912397 0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter) rs886041186 0.00001
NM_000094.4(COL7A1):c.5869C>T (p.Arg1957Trp) rs747081862 0.00001
NM_000094.4(COL7A1):c.6176A>G (p.Glu2059Gly) rs1057517726 0.00001
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) rs121912849 0.00001
NM_000094.4(COL7A1):c.6190G>A (p.Gly2064Arg) rs866061439 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6751G>A (p.Gly2251Arg) rs765034336 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.6788G>A (p.Gly2263Asp) rs1405839597 0.00001
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) rs121912854 0.00001
NM_000094.4(COL7A1):c.7078G>A (p.Gly2360Arg) rs916512411 0.00001
NM_000094.4(COL7A1):c.7219G>A (p.Gly2407Ser) rs774332349 0.00001
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter) rs1342522878 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916 0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter) rs2043645754 0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp) rs369591910 0.00001
NM_000094.4(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853 0.00001
NC_000003.12:g.48595347G>A rs2046013117
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.1637-1G>A rs886058642
NM_000094.4(COL7A1):c.1781-1G>C rs1553614878
NM_000094.4(COL7A1):c.1A>G (p.Met1Val) rs1064797078
NM_000094.4(COL7A1):c.2223_2226dup (p.Leu743fs) rs1057517720
NM_000094.4(COL7A1):c.2291del (p.Pro764fs) rs775496394
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2388G>A (p.Trp796Ter) rs2045490885
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2587+1G>A rs1294265690
NM_000094.4(COL7A1):c.2607_2608del (p.Leu870fs) rs1085307849
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter) rs1349541188
NM_000094.4(COL7A1):c.2715_2722dup (p.Gln908fs) rs1553613303
NM_000094.4(COL7A1):c.2803_2804del (p.Ser935fs) rs2045385688
NM_000094.4(COL7A1):c.2993-5_3007dup rs2107756223
NM_000094.4(COL7A1):c.3551-3T>G rs773263825
NM_000094.4(COL7A1):c.3751_3752insACCA (p.Cys1251fs) rs1064795917
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.4011+1G>A rs1553862581
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.4128del (p.Gly1377fs) rs1575466699
NM_000094.4(COL7A1):c.4466del (p.Gly1489fs) rs886041885
NM_000094.4(COL7A1):c.4482+1G>A
NM_000094.4(COL7A1):c.4506_4516del (p.Ala1503fs) rs1267995796
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs) rs756897026
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4668+1G>A rs1317431984
NM_000094.4(COL7A1):c.4670G>A (p.Gly1557Glu) rs1057520566
NM_000094.4(COL7A1):c.4766dup (p.Asp1590fs) rs1369428850
NM_000094.4(COL7A1):c.4767del (p.Asp1590fs) rs1057517721
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.4(COL7A1):c.4928G>A (p.Gly1643Asp) rs1057520567
NM_000094.4(COL7A1):c.5015del (p.Lys1672fs) rs1064793499
NM_000094.4(COL7A1):c.5027G>A (p.Gly1676Glu) rs886041188
NM_000094.4(COL7A1):c.5035G>A (p.Gly1679Arg) rs1131691601
NM_000094.4(COL7A1):c.5098G>C (p.Gly1700Arg) rs773932446
NM_000094.4(COL7A1):c.5261del (p.Pro1754fs) rs1057517723
NM_000094.4(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.4(COL7A1):c.5264G>A (p.Gly1755Asp) rs2107698800
NM_000094.4(COL7A1):c.5273G>T (p.Gly1758Val) rs1553857986
NM_000094.4(COL7A1):c.5291G>A (p.Gly1764Asp)
NM_000094.4(COL7A1):c.5299G>A (p.Gly1767Arg) rs2044562067
NM_000094.4(COL7A1):c.5300G>A (p.Gly1767Glu) rs886039720
NM_000094.4(COL7A1):c.5309G>A (p.Gly1770Asp) rs2531055112
NM_000094.4(COL7A1):c.5318G>T (p.Gly1773Val) rs2107697174
NM_000094.4(COL7A1):c.5388+5G>A rs1057523751
NM_000094.4(COL7A1):c.5425-1G>C rs112850769
NM_000094.4(COL7A1):c.5462G>A (p.Gly1821Asp) rs2107692123
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5585C>G (p.Ser1862Ter) rs1013627013
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.5659_5666dup (p.Pro1892fs) rs1553855974
NM_000094.4(COL7A1):c.5701-1G>T rs1553855868
NM_000094.4(COL7A1):c.5720_5721delinsAT (p.Gly1907Asp) rs1057517725
NM_000094.4(COL7A1):c.5772+1G>A rs2107680218
NM_000094.4(COL7A1):c.5774G>A (p.Gly1925Asp)
NM_000094.4(COL7A1):c.5774G>T (p.Gly1925Val)
NM_000094.4(COL7A1):c.58C>T (p.Arg20Ter) rs886039562
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter) rs1368134215
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6008G>A (p.Gly2003Glu) rs2107675162
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp) rs2107674937
NM_000094.4(COL7A1):c.6041del (p.Gln2014fs) rs1575439903
NM_000094.4(COL7A1):c.6067_6075delinsAATGGGGT (p.Glu2023fs) rs2530972775
NM_000094.4(COL7A1):c.6074del (p.Gly2025fs) rs886041417
NM_000094.4(COL7A1):c.6081del (p.Pro2029fs) rs780623622
NM_000094.4(COL7A1):c.6081dup (p.Gly2028fs) rs780623622
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6101G>C (p.Gly2034Ala) rs1057520530
NM_000094.4(COL7A1):c.6109G>A (p.Gly2037Arg) rs1057520599
NM_000094.4(COL7A1):c.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6127G>T (p.Gly2043Trp) rs121912836
NM_000094.4(COL7A1):c.6164G>A (p.Gly2055Glu) rs1553854678
NM_000094.4(COL7A1):c.6172G>A (p.Gly2058Arg) rs2107673815
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val) rs2044208810
NM_000094.4(COL7A1):c.6189_6206del (p.Lys2066_Glu2071del) rs2107672756
NM_000094.4(COL7A1):c.6199G>A (p.Gly2067Arg) rs2530966244
NM_000094.4(COL7A1):c.6215A>G (p.Gln2072Arg) rs2530965674
NM_000094.4(COL7A1):c.6216+2T>G rs2530965573
NM_000094.4(COL7A1):c.6217G>T (p.Gly2073Cys) rs2107672112
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6351delinsAT (p.Gly2117_Glu2118insTer) rs1575437481
NM_000094.4(COL7A1):c.6394G>C (p.Gly2132Arg) rs1131691559
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6602G>A (p.Gly2201Glu) rs2107663241
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6656dup (p.Thr2220fs) rs757406252
NM_000094.4(COL7A1):c.6662G>A (p.Gly2221Glu) rs200382597
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs) rs749256529
NM_000094.4(COL7A1):c.6716G>T (p.Gly2239Val)
NM_000094.4(COL7A1):c.6724G>A (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.6725G>A (p.Gly2242Glu) rs2530915318
NM_000094.4(COL7A1):c.6761G>A (p.Gly2254Glu) rs2107659875
NM_000094.4(COL7A1):c.6769G>A (p.Gly2257Arg) rs886041189
NM_000094.4(COL7A1):c.6770G>C (p.Gly2257Ala) rs1057517969
NM_000094.4(COL7A1):c.6778G>C (p.Gly2260Arg) rs2107659720
NM_000094.4(COL7A1):c.6842G>C (p.Gly2281Ala) rs1064793915
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.6864_6879del (p.Lys2289fs) rs1553853022
NM_000094.4(COL7A1):c.6900+1G>A rs1064793908
NM_000094.4(COL7A1):c.6900+2_6900+5del rs2530908786
NM_000094.4(COL7A1):c.7060G>C (p.Gly2354Arg) rs748466015
NM_000094.4(COL7A1):c.7097G>T (p.Gly2366Val) rs2043899331
NM_000094.4(COL7A1):c.7106G>A (p.Gly2369Asp) rs2107650135
NM_000094.4(COL7A1):c.7154del (p.Pro2385fs) rs909040709
NM_000094.4(COL7A1):c.7247G>T (p.Gly2416Val) rs769933448
NM_000094.4(COL7A1):c.7411C>T (p.Arg2471Ter) rs121912852
NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp) rs886039328
NM_000094.4(COL7A1):c.7688G>A (p.Gly2563Asp) rs1064793904
NM_000094.4(COL7A1):c.7708del (p.Asp2570fs) rs2107639823
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.7987G>T (p.Glu2663Ter) rs756771873
NM_000094.4(COL7A1):c.8012G>A (p.Gly2671Glu) rs886039329
NM_000094.4(COL7A1):c.8102G>T (p.Gly2701Val) rs1057520693
NM_000094.4(COL7A1):c.8110G>A (p.Gly2704Arg) rs2530818610
NM_000094.4(COL7A1):c.8111G>A (p.Gly2704Glu) rs2107632852
NM_000094.4(COL7A1):c.8165G>A (p.Gly2722Asp) rs759949767
NM_000094.4(COL7A1):c.8219_8226+1delinsAC
NM_000094.4(COL7A1):c.8233C>T (p.Arg2745Ter) rs768202310
NM_000094.4(COL7A1):c.8272del (p.Val2758fs) rs1553849789
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
NM_000094.4(COL7A1):c.8371del (p.Arg2791fs) rs2107630477
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385
NM_000094.4(COL7A1):c.90del (p.Cys31fs) rs747209331

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