ClinVar Miner

List of variants reported as pathogenic by Biomedical Innovation Departament, CIEMAT

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
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.5499C>T (p.Gly1833=) rs758886532 0.00003
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.7068+5G>A rs779875751 0.00002
NM_000094.4(COL7A1):c.7738C>T (p.Arg2580Cys) rs762084565 0.00002
NM_000094.4(COL7A1):c.1573C>T (p.Arg525Ter) rs368007918 0.00001
NM_000094.4(COL7A1):c.3140-1G>A rs886041187 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.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000094.4(COL7A1):c.553C>T (p.Arg185Ter) rs886041186 0.00001
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) rs121912849 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.6686C>T (p.Pro2229Leu) rs1397883643 0.00001
NM_000094.4(COL7A1):c.6767C>T (p.Pro2256Leu) rs1160109522 0.00001
NM_000094.4(COL7A1):c.6781C>T (p.Arg2261Ter) rs772381373 0.00001
NM_000094.4(COL7A1):c.7051G>A (p.Gly2351Arg) rs1800013 0.00001
NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter) rs121912854 0.00001
NM_000094.4(COL7A1):c.7097G>A (p.Gly2366Asp) rs2043899331 0.00001
NM_000094.4(COL7A1):c.7380+2T>C rs1249145909 0.00001
NM_000094.4(COL7A1):c.7651G>C (p.Gly2551Arg) rs1465411279 0.00001
NM_000094.4(COL7A1):c.7930-1G>C rs757816953 0.00001
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp) rs759039839 0.00001
NM_000094.4(COL7A1):c.977-33A>C rs759455445 0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) rs80338755 0.00001
NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp) rs1164329850 0.00001
NM_000228.3(LAMB3):c.430C>T (p.Arg144Ter) rs759518184 0.00001
NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) rs1264710617 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000494.4(COL17A1):c.2596G>A (p.Gly866Arg) rs768705886 0.00001
NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter) rs121912769 0.00001
NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) rs782169513 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NC_000003.12:g.48595347G>A rs2046013117
NM_000094.4(COL7A1):c.126dup (p.Leu43fs) rs2045934591
NM_000094.4(COL7A1):c.1423C>T (p.Gln475Ter) rs1482450152
NM_000094.4(COL7A1):c.1507G>A (p.Gly503Arg) rs2045711151
NM_000094.4(COL7A1):c.1758del (p.Ser587fs) rs2045631974
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter) rs1262422383
NM_000094.4(COL7A1):c.2142A>G (p.Gly714=) rs2045550860
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2588C>G (p.Pro863Arg) rs968625343
NM_000094.4(COL7A1):c.267-3C>G rs1559441291
NM_000094.4(COL7A1):c.2722_2723del (p.Gln908fs) rs2045393864
NM_000094.4(COL7A1):c.2737G>A (p.Gly913Arg) rs765353150
NM_000094.4(COL7A1):c.2783_2784insGACAC (p.Gln929fs) rs2045388619
NM_000094.4(COL7A1):c.2984dup (p.Gly996fs) rs2045352552
NM_000094.4(COL7A1):c.2992+2T>G rs1575476280
NM_000094.4(COL7A1):c.3130C>T (p.Gln1044Ter) rs1205027821
NM_000094.4(COL7A1):c.3148del (p.Arg1050fs) rs2045324382
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.3277-1G>C rs2045289296
NM_000094.4(COL7A1):c.3294C>G (p.Tyr1098Ter) rs1241474192
NM_000094.4(COL7A1):c.336C>G (p.Tyr112Ter) rs2045866462
NM_000094.4(COL7A1):c.3759+1G>T rs2045220016
NM_000094.4(COL7A1):c.3759+2T>G rs2045219860
NM_000094.4(COL7A1):c.3995G>A (p.Gly1332Asp) rs2045124635
NM_000094.4(COL7A1):c.4012G>A (p.Gly1338Arg) rs1156352791
NM_000094.4(COL7A1):c.4128del (p.Gly1377fs) rs1575466699
NM_000094.4(COL7A1):c.4147G>A (p.Gly1383Arg) rs2045046700
NM_000094.4(COL7A1):c.4197+1G>T rs1401166141
NM_000094.4(COL7A1):c.4343G>A (p.Gly1448Asp) rs1202682853
NM_000094.4(COL7A1):c.4401+1G>A rs2044949727
NM_000094.4(COL7A1):c.4434dup (p.Lys1479fs) rs2044929403
NM_000094.4(COL7A1):c.448G>C (p.Gly150Arg) rs757715378
NM_000094.4(COL7A1):c.4550_4554del (p.Ala1517fs) rs756897026
NM_000094.4(COL7A1):c.5017_5018del (p.Gly1673fs) rs2044681542
NM_000094.4(COL7A1):c.5130_5131insCTCAC (p.Thr1711fs) rs2044604844
NM_000094.4(COL7A1):c.5132_5133insTCACC (p.Gly1712fs) rs770456964
NM_000094.4(COL7A1):c.5287C>T (p.Arg1763Ter) rs1360704374
NM_000094.4(COL7A1):c.5327G>A (p.Gly1776Glu) rs2044551330
NM_000094.4(COL7A1):c.5381G>A (p.Gly1794Glu) rs2044547049
NM_000094.4(COL7A1):c.5390G>A (p.Gly1797Asp) rs2044523630
NM_000094.4(COL7A1):c.5407G>A (p.Gly1803Arg) rs2044522375
NM_000094.4(COL7A1):c.5449C>T (p.Gln1817Ter) rs2044485662
NM_000094.4(COL7A1):c.5532+1G>T rs767182886
NM_000094.4(COL7A1):c.5532+6T>C rs1186291778
NM_000094.4(COL7A1):c.5561_5565del (p.Gly1854fs) rs2044357264
NM_000094.4(COL7A1):c.5569-11_5569-3del rs2044350714
NM_000094.4(COL7A1):c.5576_5577del (p.Lys1859fs) rs2044349915
NM_000094.4(COL7A1):c.5755G>A (p.Gly1919Arg) rs2044302053
NM_000094.4(COL7A1):c.5771A>G (p.Gln1924Arg) rs746824716
NM_000094.4(COL7A1):c.5892_5905del (p.Asp1964fs) rs2044251759
NM_000094.4(COL7A1):c.58_70del (p.Arg20fs) rs2045987838
NM_000094.4(COL7A1):c.5932C>T (p.Arg1978Ter) rs1368134215
NM_000094.4(COL7A1):c.5944_5945delinsTA (p.Gly1982Ter) rs2044247868
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000094.4(COL7A1):c.6034G>A (p.Gly2012Ser) rs2044234082
NM_000094.4(COL7A1):c.6041_6042del (p.Gln2014fs) rs2044233322
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val) rs121912843
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.6119G>A (p.Gly2040Asp) rs2044225406
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6132_6133insAGGCTC (p.Leu2044_Pro2045insArgLeu) rs2044224449
NM_000094.4(COL7A1):c.6146G>A (p.Gly2049Glu) rs1410793870
NM_000094.4(COL7A1):c.6178_6179del (p.Arg2060fs) rs2044219708
NM_000094.4(COL7A1):c.6181-2A>G rs2044208947
NM_000094.4(COL7A1):c.6182G>T (p.Gly2061Val) rs2044208810
NM_000094.4(COL7A1):c.6266_6269del (p.Pro2089fs) rs2044195570
NM_000094.4(COL7A1):c.6501G>T (p.Pro2167=) rs767539005
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6573+1G>C rs1575434262
NM_000094.4(COL7A1):c.6574-1G>C rs2044079243
NM_000094.4(COL7A1):c.6618+1G>A rs2044077001
NM_000094.4(COL7A1):c.6662G>C (p.Gly2221Ala) rs200382597
NM_000094.4(COL7A1):c.6670G>T (p.Gly2224Ter) rs373768300
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.6900+2T>G rs2044013947
NM_000094.4(COL7A1):c.7104+5G>A rs2043898537
NM_000094.4(COL7A1):c.7249C>T (p.Gln2417Ter) rs983476178
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp) rs1189942401
NM_000094.4(COL7A1):c.7272+5G>A rs2043871373
NM_000094.4(COL7A1):c.7283G>T (p.Gly2428Val) rs1247022294
NM_000094.4(COL7A1):c.7300G>A (p.Gly2434Arg) rs2043856489
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7559G>T (p.Gly2520Val) rs2043785663
NM_000094.4(COL7A1):c.7686G>C (p.Lys2562Asn) rs2043771421
NM_000094.4(COL7A1):c.7756dup (p.Gln2586fs) rs2043739526
NM_000094.4(COL7A1):c.7760G>A (p.Gly2587Asp) rs2043716834
NM_000094.4(COL7A1):c.7864del (p.Arg2622fs) rs2043688497
NM_000094.4(COL7A1):c.7885G>C (p.Gly2629Arg) rs2043678898
NM_000094.4(COL7A1):c.7929+2T>C rs113597796
NM_000094.4(COL7A1):c.8103_8104dup (p.Glu2702fs) rs2043642775
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val) rs759949767
NM_000094.4(COL7A1):c.8209G>C (p.Gly2737Arg) rs2043632416
NM_000094.4(COL7A1):c.8304+1G>A rs759579761
NM_000094.4(COL7A1):c.84A>G (p.Arg28=) rs1559444716
NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs) rs2043546624
NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His) rs2043545754
NM_000094.4(COL7A1):c.86-8C>A rs1012398135
NM_000094.4(COL7A1):c.8717del (p.Pro2906fs) rs2043532784
NM_000094.4(COL7A1):c.887del (p.Gly296fs) rs1131691385
NM_000094.4(COL7A1):c.976+50_977-39del rs2045775921
NM_000210.4(ITGA6):c.1286C>A (p.Ser429Ter) rs1686177024
NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr) rs2060870463
NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser) rs2061001234
NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser) rs902551587
NM_000213.5(ITGB4):c.2633+1G>A rs1348061804
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) rs2061333185
NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) rs121912468
NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs) rs2061355653
NM_000213.5(ITGB4):c.472_566+184del rs2060771091
NM_000213.5(ITGB4):c.701G>T (p.Gly234Val) rs1038415538
NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys) rs1422797135
NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp) rs761952496
NM_000228.3(LAMB3):c.1634del (p.Gly545fs) rs1666434871
NM_000228.3(LAMB3):c.2047del (p.Glu683fs) rs1666320034
NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) rs1064793896
NM_000228.3(LAMB3):c.323T>C (p.Leu108Pro) rs1464871076
NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) rs267607458
NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) rs59243757
NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) rs57599352
NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) rs1938615785
NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) rs62642056
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.556-16C>G rs376462752
NM_000424.4(KRT5):c.556G>A (p.Val186Met) rs121912475
NM_000424.4(KRT5):c.556G>T (p.Val186Leu) rs121912475
NM_000424.4(KRT5):c.557T>A (p.Val186Glu) rs267607457
NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) rs1938667202
NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) rs60586163
NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) rs1938666838
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.771delG rs1938645889
NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) rs1938635857
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010
NM_000494.4(COL17A1):c.1571_1572dup (p.Gln525fs) rs2086520075
NM_000494.4(COL17A1):c.2228-3_2235delinsTTG rs1554848576
NM_000494.4(COL17A1):c.2576dup (p.Gly860fs) rs2086359795
NM_000494.4(COL17A1):c.3766+1G>A rs2086256572
NM_000494.4(COL17A1):c.3827dup (p.Gly1277fs) rs751058779
NM_000494.4(COL17A1):c.3828_3829insC (p.Gly1277fs) rs2086249404
NM_000494.4(COL17A1):c.4156+1G>A rs373469159
NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) rs773920224
NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) rs1907401835
NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) rs1907400034
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) rs267607389
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) rs59442925
NM_000526.5(KRT14):c.1274+5G>C rs1907395416
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) rs60338701
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) rs60470268
NM_000526.5(KRT14):c.397G>T (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.749del (p.Lys250fs) rs267607406
NM_005562.3(LAMC2):c.2015-2A>G rs1659834817
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter) rs1659836821
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs) rs774734592
NM_005562.3(LAMC2):c.3343_3344del (p.Val1115fs) rs1660171997
NM_005562.3(LAMC2):c.379G>T (p.Gly127Trp) rs779546941
NM_005562.3(LAMC2):c.404+3_404+6del rs1659229440
NM_006846.4(SPINK5):c.882+1_882+3del rs750225476
NM_017671.5(FERMT1):c.1198T>C (p.Ser400Pro) rs869312718
NM_017671.5(FERMT1):c.1264+1G>A rs1982268239
NM_017671.5(FERMT1):c.1264+363_1372-602del
NM_017671.5(FERMT1):c.1371+4A>G rs1064793979
NM_017671.5(FERMT1):c.1378C>T (p.Gln460Ter) rs1982142302
NM_017671.5(FERMT1):c.1867_1869del (p.Ile623del) rs869312721
NM_017671.5(FERMT1):c.341C>G (p.Ser114Ter) rs1983080839
NM_198129.4(LAMA3):c.6319-1G>T rs2081155250
NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs) rs2081156116
NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser) rs2082978607
NM_201384.3(PLEC):c.5663del (p.Lys1888fs) rs1824069966
NM_201384.3(PLEC):c.9294del (p.Glu3099fs) rs1822243280

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