ClinVar Miner

List of variants reported as benign for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8500= (p.Gly2834=) rs1154233 0.99993
NM_000228.3(LAMB3):c.2702-12dup rs397807887 0.95488
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_198129.4(LAMA3):c.7778+97T>C rs1541836 0.67847
NM_198129.4(LAMA3):c.2901T>C (p.Ala967=) rs9962023 0.64176
NM_000228.3(LAMB3):c.184-70A>G rs2076357 0.57810
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_198129.4(LAMA3):c.*91C>T rs1051150 0.51640
NM_198129.4(LAMA3):c.*89C>A rs1051149 0.51636
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_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_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_005562.3(LAMC2):c.*13T>G rs3768593 0.23969
NM_198129.4(LAMA3):c.6147C>G (p.Ala2049=) rs1154226 0.21073
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_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_000228.3(LAMB3):c.2673A>G (p.Leu891=) rs3179860 0.11219
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_198129.4(LAMA3):c.5322C>T (p.Phe1774=) rs958631 0.08419
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_198129.4(LAMA3):c.6555C>T (p.Ala2185=) rs35872318 0.02513
NM_000228.3(LAMB3):c.564+10G>A rs12410975 0.02306
NM_198129.4(LAMA3):c.*239G>A rs45543834 0.01494
NM_198129.4(LAMA3):c.8104A>G (p.Thr2702Ala) rs9952370 0.01207
NM_000228.3(LAMB3):c.1015T>C (p.Tyr339His) rs52814161 0.01066
NM_198129.4(LAMA3):c.9643-14C>T rs72875942 0.00748
NM_198129.4(LAMA3):c.9353G>A (p.Ser3118Asn) rs61749943 0.00618
NM_198129.4(LAMA3):c.*395A>T rs138907590 0.00519
NM_198129.4(LAMA3):c.7818G>A (p.Thr2606=) rs139567388 0.00426
NM_005562.3(LAMC2):c.880C>T (p.Leu294=) rs144572936 0.00307
NM_198129.4(LAMA3):c.6805C>G (p.Leu2269Val) rs138591939 0.00303
NM_198129.4(LAMA3):c.9027-11G>A rs117781425 0.00152
NM_000227.6(LAMA3):c.110T>G (p.Phe37Cys) rs138914132 0.00126
NM_198129.4(LAMA3):c.8898C>T (p.Ser2966=) rs141164795 0.00121
NM_000228.3(LAMB3):c.1289-186G>A rs61822212
NM_000228.3(LAMB3):c.822+33G>C rs2072940
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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