ClinVar Miner

List of variants reported as benign for Junctional epidermolysis bullosa, non-Herlitz type

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ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8500= (p.Gly2834=) rs1154233 0.99993
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=) rs2476958 0.98672
NM_000228.3(LAMB3):c.2702-12dup rs397807887 0.95488
NM_000494.4(COL17A1):c.1465+48A>G rs805696 0.92652
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser) rs805698 0.84905
NM_000228.3(LAMB3):c.823-15C>T rs4844863 0.84219
NM_198129.4(LAMA3):c.2304+67G>T rs6507956 0.79861
NM_198129.4(LAMA3):c.1942-74G>C rs2155841 0.79748
NM_000228.3(LAMB3):c.1716T>C (p.Cys572=) rs2179402 0.74805
NM_198129.4(LAMA3):c.948-84C>T rs6507894 0.72706
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val) rs805722 0.72600
NM_000494.4(COL17A1):c.3278-9C>G rs2274098 0.72589
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=) rs2274100 0.72299
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=) rs4918079 0.71960
NM_000494.4(COL17A1):c.3208+16C>T rs2282437 0.71950
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=) rs2296219 0.71801
NM_000213.5(ITGB4):c.*25C>T rs9367 0.71419
NM_198129.4(LAMA3):c.7778+97T>C rs1541836 0.67847
NM_000213.5(ITGB4):c.5054-25C>G rs2249613 0.66427
NM_198129.4(LAMA3):c.2901T>C (p.Ala967=) rs9962023 0.64176
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443 0.61836
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met) rs805708 0.59454
NM_000228.3(LAMB3):c.184-70A>G rs2076357 0.57810
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=) rs805701 0.56681
NM_000228.3(LAMB3):c.291A>C (p.Ser97=) rs2076356 0.56410
NM_198129.4(LAMA3):c.9211-21C>T rs2288592 0.51885
NM_198129.4(LAMA3):c.9352-7G>A rs2241643 0.51794
NM_000213.5(ITGB4):c.3474+21T>C rs820388 0.50671
NM_198129.4(LAMA3):c.4260G>C (p.Gly1420=) rs867449 0.48275
NM_198129.4(LAMA3):c.4137-87A>G rs867448 0.47865
NM_198129.4(LAMA3):c.2304+44A>C rs7244406 0.47571
NM_198129.4(LAMA3):c.4530C>T (p.Pro1510=) rs12965685 0.47260
NM_005562.3(LAMC2):c.268+14A>G rs647347 0.45636
NM_000228.3(LAMB3):c.3432A>G (p.Ser1144=) rs1049607 0.44327
NM_000494.4(COL17A1):c.2398+19G>A rs813944 0.43385
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669 0.37872
NM_198129.4(LAMA3):c.6201+53A>G rs1154227 0.35521
NM_000228.3(LAMB3):c.384C>T (p.Pro128=) rs1130667 0.30741
NM_005562.3(LAMC2):c.798T>G (p.Gly266=) rs1047980 0.29549
NM_005562.3(LAMC2):c.2688G>A (p.Gln896=) rs1047981 0.29455
NM_000228.3(LAMB3):c.1976+169T>C rs4844860 0.29396
NM_000228.3(LAMB3):c.298+50T>A rs2076355 0.28812
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly) rs17116350 0.28157
NM_000228.3(LAMB3):c.2556+60C>T rs3737913 0.27290
NM_000228.3(LAMB3):c.*102C>T rs2566 0.27226
NM_005562.3(LAMC2):c.641-80C>T rs2296307 0.25699
NM_005562.3(LAMC2):c.483C>T (p.Val161=) rs1129723 0.25575
NM_005562.3(LAMC2):c.297C>T (p.Ser99=) rs2274980 0.25565
NM_005562.3(LAMC2):c.405-31T>C rs10911285 0.25565
NM_000228.3(LAMB3):c.138C>T (p.Thr46=) rs2228339 0.25110
NM_005562.3(LAMC2):c.-6C>A rs684527 0.24932
NM_000494.4(COL17A1):c.*64G>C rs805687 0.23210
NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=) rs1154226 0.21073
NM_000494.4(COL17A1):c.*638G>A rs9425 0.19895
NM_005562.3(LAMC2):c.-89A>G rs2276542 0.17959
NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys) rs1154232 0.17201
NM_198129.4(LAMA3):c.1183-110C>T rs6507907 0.16922
NM_005562.3(LAMC2):c.2198G>C (p.Ser733Thr) rs2296303 0.16512
NM_198129.4(LAMA3):c.565+64G>T rs9955745 0.15790
NM_198129.4(LAMA3):c.8731C>T (p.Leu2911=) rs1131521 0.15145
NM_000494.4(COL17A1):c.1267+13C>T rs11191910 0.13838
NM_000228.3(LAMB3):c.1579G>A (p.Val527Met) rs2076349 0.12644
NM_000228.3(LAMB3):c.1486-18G>A rs2076350 0.12625
NM_000228.3(LAMB3):c.1289-52G>A rs2072938 0.12083
NM_000494.4(COL17A1):c.1717+14T>C rs17821926 0.11666
NM_000228.3(LAMB3):c.2673A>G (p.Leu891=) rs3179860 0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_005562.3(LAMC2):c.371C>T (p.Thr124Met) rs11586699 0.05840
NM_000228.3(LAMB3):c.1764T>C (p.Tyr588=) rs2229465 0.02743
NM_000228.3(LAMB3):c.2777C>A (p.Ala926Asp) rs2076222 0.02691
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) rs2072937 0.02665
NM_000228.3(LAMB3):c.2069A>G (p.Asn690Ser) rs2229466 0.02614
NM_000228.3(LAMB3):c.564+10G>A rs12410975 0.02306
NM_000494.4(COL17A1):c.384T>C (p.Ser128=) rs17116460 0.01786
NM_000494.4(COL17A1):c.53-10C>T rs116946544 0.01760
NM_000494.4(COL17A1):c.2868T>A (p.Pro956=) rs61731077 0.01081
NM_000494.4(COL17A1):c.*74G>T rs12253626 0.00953
NM_000494.4(COL17A1):c.10A>G (p.Thr4Ala) rs17116471 0.00936
NM_000494.4(COL17A1):c.2092+5G>A rs142728983 0.00652
NM_000494.4(COL17A1):c.630G>A (p.Thr210=) rs149012179 0.00615
NM_000494.4(COL17A1):c.4028C>T (p.Pro1343Leu) rs61731087 0.00595
NM_000494.4(COL17A1):c.2605+13G>A rs41290934 0.00547
NM_000494.4(COL17A1):c.1306G>A (p.Gly436Arg) rs805697 0.00540
NM_000494.4(COL17A1):c.3633A>G (p.Ser1211=) rs140197646 0.00443
NM_000494.4(COL17A1):c.3600C>T (p.Asp1200=) rs57358586 0.00395
NM_000494.4(COL17A1):c.1307G>A (p.Gly436Glu) rs61731082 0.00366
NM_000494.4(COL17A1):c.2755G>A (p.Asp919Asn) rs117564807 0.00194
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) rs146325169 0.00114
NM_000494.4(COL17A1):c.202+6T>G rs139524792 0.00047
NM_000494.4(COL17A1):c.2208C>T (p.Pro736=) rs139559170 0.00031
NM_000494.4(COL17A1):c.3085T>G (p.Ser1029Ala) rs118166857 0.00031
NM_000494.4(COL17A1):c.2704A>T (p.Thr902Ser) rs117837187 0.00029
NM_000494.4(COL17A1):c.566G>C (p.Gly189Ala) rs376556766 0.00001
NM_000228.3(LAMB3):c.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.822+33G>C rs2072940
NM_000494.4(COL17A1):c.606G>C (p.Ser202=) rs17116450
NM_000494.4(COL17A1):c.979+27T>A rs805704
NM_198129.4(LAMA3):c.1064-15A>G rs7232856
NM_198129.4(LAMA3):c.5462-44G>A rs1268716
NM_198129.4(LAMA3):c.8576+7G>C rs1258107

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