ClinVar Miner

List of variants in gene COL7A1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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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.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.5154+5T>C rs2854400 0.00317
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006 0.00089
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp) rs142059751 0.00026
NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) rs150903058 0.00021
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.2146A>G (p.Arg716Gly) rs143040168 0.00018
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.8359-17T>A rs200207978 0.00013
NM_000094.4(COL7A1):c.4780C>T (p.Arg1594Trp) rs267599859 0.00012
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000094.4(COL7A1):c.7037G>A (p.Arg2346His) rs201432371 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.5339G>A (p.Arg1780Gln) rs765367177 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000094.4(COL7A1):c.1202G>T (p.Arg401Leu) rs757929353 0.00003
NM_000094.4(COL7A1):c.3714C>T (p.Phe1238=) rs1380863838 0.00003
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.8783G>A (p.Arg2928His) rs758740269 0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys) rs781144604 0.00002
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.4228C>T (p.Pro1410Ser) rs778098950 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.5440C>T (p.Arg1814Cys) rs778035441 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.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.2050+16C>T rs749425003 0.00001
NM_000094.4(COL7A1):c.2587+40G>A rs1158768165 0.00001
NM_000094.4(COL7A1):c.3140-1G>A rs886041187 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.4818+18T>A rs368227259 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.4899+31G>A rs370500985 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.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.6262G>A (p.Gly2088Arg) rs573432153 0.00001
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp) rs755669902 0.00001
NM_000094.4(COL7A1):c.6738G>T (p.Leu2246Phe) rs575575729 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.7060G>C (p.Gly2354Arg) rs748466015 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.7204G>A (p.Val2402Ile) rs761576147 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.7411C>T (p.Arg2471Ter) rs121912852 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 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
NC_000003.12:g.48595347G>A rs2046013117
NM_000094.4(COL7A1):c.1452_1453del (p.Tyr485fs) rs752558942
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
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.2252T>A (p.Val751Glu) rs2107772444
NM_000094.4(COL7A1):c.2291del (p.Pro764fs) rs775496394
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2360C>T (p.Ala787Val) rs2107769020
NM_000094.4(COL7A1):c.2440+3A>G
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.2644T>C (p.Ser882Pro) rs2045438463
NM_000094.4(COL7A1):c.2699G>A (p.Trp900Ter) rs1349541188
NM_000094.4(COL7A1):c.2710+2T>C rs1553613528
NM_000094.4(COL7A1):c.2710+35T>G rs28581474
NM_000094.4(COL7A1):c.2715_2722dup (p.Gln908fs) rs1553613303
NM_000094.4(COL7A1):c.2729G>C (p.Arg910Pro) rs373718618
NM_000094.4(COL7A1):c.276C>A (p.Phe92Leu) rs746563255
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys) rs143979792
NM_000094.4(COL7A1):c.2803_2804del (p.Ser935fs) rs2045385688
NM_000094.4(COL7A1):c.2993-5_3007dup rs2107756223
NM_000094.4(COL7A1):c.3103G>A (p.Val1035Met)
NM_000094.4(COL7A1):c.3140-10del rs1228248856
NM_000094.4(COL7A1):c.3446A>G (p.Asp1149Gly) rs1057520274
NM_000094.4(COL7A1):c.3551-3T>G rs773263825
NM_000094.4(COL7A1):c.3631C>T (p.Gln1211Ter) rs747522386
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.4057G>A (p.Gly1353Arg)
NM_000094.4(COL7A1):c.409C>T (p.Arg137Ter) rs1203706188
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.4120-20T>C rs1057521500
NM_000094.4(COL7A1):c.4466del (p.Gly1489fs) rs886041885
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs) rs756897026
NM_000094.4(COL7A1):c.4568del (p.Pro1523fs) rs778165989
NM_000094.4(COL7A1):c.4600G>A (p.Gly1534Arg) rs1553860378
NM_000094.4(COL7A1):c.4668+1G>A rs1317431984
NM_000094.4(COL7A1):c.4670G>A (p.Gly1557Glu) rs1057520566
NM_000094.4(COL7A1):c.4744C>T (p.Pro1582Ser)
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.5299G>A (p.Gly1767Arg)
NM_000094.4(COL7A1):c.5300G>A (p.Gly1767Glu) rs886039720
NM_000094.4(COL7A1):c.5309G>A (p.Gly1770Asp)
NM_000094.4(COL7A1):c.5318G>T (p.Gly1773Val) rs2107697174
NM_000094.4(COL7A1):c.5388+5G>A rs1057523751
NM_000094.4(COL7A1):c.5424+61C>T rs73078310
NM_000094.4(COL7A1):c.5425-1G>C rs112850769
NM_000094.4(COL7A1):c.5462G>A (p.Gly1821Asp) rs2107692123
NM_000094.4(COL7A1):c.5476C>T (p.Pro1826Ser) rs2107692007
NM_000094.4(COL7A1):c.5532+1G>A rs767182886
NM_000094.4(COL7A1):c.5532+4A>G rs2107690960
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.5609G>A (p.Arg1870His)
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.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.6023G>A (p.Arg2008His) rs1002845719
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)
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.6176A>G (p.Glu2059Gly) rs1057517726
NM_000094.4(COL7A1):c.6180+23A>T rs1553854648
NM_000094.4(COL7A1):c.6181-4del rs2044209233
NM_000094.4(COL7A1):c.6189_6206del (p.Lys2066_Glu2071del) rs2107672756
NM_000094.4(COL7A1):c.6199G>A (p.Gly2067Arg)
NM_000094.4(COL7A1):c.6215A>G (p.Gln2072Arg)
NM_000094.4(COL7A1):c.6216+2T>G
NM_000094.4(COL7A1):c.6216+37G>A rs2107672377
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)
NM_000094.4(COL7A1):c.6696dup (p.Gly2233fs) rs749256529
NM_000094.4(COL7A1):c.6724G>A (p.Gly2242Arg) rs121912837
NM_000094.4(COL7A1):c.6725G>A (p.Gly2242Glu)
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.6832-3T>C rs1553853065
NM_000094.4(COL7A1):c.6842G>C (p.Gly2281Ala) rs1064793915
NM_000094.4(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) rs1553853012
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.6861A>G (p.Gly2287=) rs1315644130
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
NM_000094.4(COL7A1):c.7021_7023del (p.Lys2341del)
NM_000094.4(COL7A1):c.7097G>T (p.Gly2366Val)
NM_000094.4(COL7A1):c.7106G>A (p.Gly2369Asp) rs2107650135
NM_000094.4(COL7A1):c.7154del (p.Pro2385fs) rs909040709
NM_000094.4(COL7A1):c.7168G>T (p.Asp2390Tyr)
NM_000094.4(COL7A1):c.7247G>T (p.Gly2416Val) rs769933448
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs) rs1575425011
NM_000094.4(COL7A1):c.7442G>A (p.Gly2481Asp) rs886039328
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738
NM_000094.4(COL7A1):c.7688G>A (p.Gly2563Asp) rs1064793904
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.7984-7del rs66737445
NM_000094.4(COL7A1):c.7987G>T (p.Glu2663Ter)
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)
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.8233C>T (p.Arg2745Ter) rs768202310
NM_000094.4(COL7A1):c.8266C>T (p.Pro2756Ser) rs755546809
NM_000094.4(COL7A1):c.8272del (p.Val2758fs) rs1553849789
NM_000094.4(COL7A1):c.8329C>T (p.Arg2777Ter) rs886039330
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.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.8528-45G>A
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385
NM_000094.4(COL7A1):c.90del (p.Cys31fs) rs747209331

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