ClinVar Miner

List of variants reported as uncertain significance for Junctional epidermolysis bullosa gravis of Herlitz by Counsyl

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys) rs61752346 0.00147
NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823 0.00116
NM_005562.3(LAMC2):c.883C>T (p.Arg295Trp) rs147959853 0.00098
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_000228.3(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820 0.00016
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111 0.00006
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056 0.00006
NM_005562.3(LAMC2):c.-15C>T rs762430522 0.00004
NM_005562.3(LAMC2):c.301C>T (p.Arg101Trp) rs563159537 0.00004
NM_198129.4(LAMA3):c.1064-2A>G rs756617534 0.00002
NM_198129.4(LAMA3):c.3376C>T (p.Arg1126Ter) rs540179310 0.00002
NM_198129.4(LAMA3):c.4519C>T (p.Gln1507Ter) rs534665666 0.00002
NM_000228.3(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859 0.00001
NM_000228.3(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846 0.00001
NM_198129.4(LAMA3):c.10000T>A (p.Ter3334Lys) rs1555756804 0.00001
NM_198129.4(LAMA3):c.1064-1G>A rs780441868 0.00001
NM_198129.4(LAMA3):c.1555C>T (p.Arg519Ter) rs757972988 0.00001
NM_198129.4(LAMA3):c.1742-1G>A rs778808869 0.00001
NM_198129.4(LAMA3):c.2147+1G>A rs1555700517 0.00001
NM_198129.4(LAMA3):c.2571+2dup rs1203300407 0.00001
NM_198129.4(LAMA3):c.3093+1G>C rs1392528129 0.00001
NM_198129.4(LAMA3):c.3175C>T (p.Arg1059Ter) rs868258726 0.00001
NM_198129.4(LAMA3):c.4996C>T (p.Gln1666Ter) rs1317347725 0.00001
NM_000228.2(LAMB3):c.2138_2140delGAG rs1553276448
NM_000228.3(LAMB3):c.1150G>A (p.Asp384Asn) rs267598351
NM_000228.3(LAMB3):c.1459_1461dup (p.Asn487dup) rs1553277238
NM_000228.3(LAMB3):c.2027_2029del (p.Leu676del) rs1553276516
NM_000228.3(LAMB3):c.2271AGG[5] (p.Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2271AGG[6] (p.Gly760_Gly761dup) rs752460751
NM_000228.3(LAMB3):c.2864_2890del (p.Asp955_Gln963del) rs745574977
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
NM_000228.3(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.3(LAMB3):c.822+2dup rs1553278151
NM_005562.3(LAMC2):c.2413_2421del (p.Ser805_Ser807del) rs1553267343
NM_005562.3(LAMC2):c.2456+2dup rs1553267357
NM_005562.3(LAMC2):c.2708AAG[2] (p.Glu905del) rs1179496469
NM_005562.3(LAMC2):c.2944_2946del (p.Lys982del) rs1553267617
NM_198129.4(LAMA3):c.1054G>T (p.Glu352Ter) rs1344062987
NM_198129.4(LAMA3):c.1611G>A (p.Trp537Ter) rs1555698689
NM_198129.4(LAMA3):c.1741+2T>C rs1555698735
NM_198129.4(LAMA3):c.18del (p.Pro7fs) rs1555670401
NM_198129.4(LAMA3):c.1941+1del rs1555700047
NM_198129.4(LAMA3):c.1942-2A>C rs1555700119
NM_198129.4(LAMA3):c.2204_2210del (p.Asp735fs) rs1555701549
NM_198129.4(LAMA3):c.2305-2A>G rs1555702265
NM_198129.4(LAMA3):c.2428+1G>A rs375558120
NM_198129.4(LAMA3):c.2572-2A>G rs1555703785
NM_198129.4(LAMA3):c.2823+1G>A rs1555704210
NM_198129.4(LAMA3):c.2868C>A (p.Tyr956Ter) rs755080322
NM_198129.4(LAMA3):c.2886T>G (p.Tyr962Ter) rs550140177
NM_198129.4(LAMA3):c.3093+1G>A rs1392528129
NM_198129.4(LAMA3):c.3140_3141del (p.Val1047fs) rs1555708032
NM_198129.4(LAMA3):c.3336+1G>A rs1555708549
NM_198129.4(LAMA3):c.3381C>A (p.Tyr1127Ter) rs767385840
NM_198129.4(LAMA3):c.3463+1G>A rs1555709710
NM_198129.4(LAMA3):c.3719+3_3719+6del rs1436285030
NM_198129.4(LAMA3):c.3936C>A (p.Cys1312Ter) rs374897016
NM_198129.4(LAMA3):c.394del (p.Leu132fs) rs887748208
NM_198129.4(LAMA3):c.3972del (p.Gln1325fs) rs747355586
NM_198129.4(LAMA3):c.4128del (p.Gln1377fs) rs1555712024
NM_198129.4(LAMA3):c.4174del (p.Cys1392fs) rs1555715208
NM_198129.4(LAMA3):c.4201G>T (p.Glu1401Ter) rs752265207
NM_198129.4(LAMA3):c.4422+1G>A rs1016415773
NM_198129.4(LAMA3):c.4501del (p.Ser1501fs) rs1555716726
NM_198129.4(LAMA3):c.4538_4560del (p.Ile1513fs) rs1555716754
NM_198129.4(LAMA3):c.4768-2A>G rs1555719747
NM_198129.4(LAMA3):c.4810GAG[1] (p.Glu1605del) rs1555719776
NM_198129.4(LAMA3):c.4855C>T (p.Gln1619Ter) rs1555719813
NM_198129.4(LAMA3):c.4909_4925del (p.Glu1637fs) rs1598965457
NM_198129.4(LAMA3):c.4974del (p.Ala1659fs) rs767394785
NM_198129.4(LAMA3):c.5072_5073insGGG (p.Gly1691dup) rs1555721786
NM_198129.4(LAMA3):c.5600_5601insTAGGCACATGGAGACCCAGGC (p.Arg1861_Ala1867dup) rs1555728685
NM_198129.4(LAMA3):c.566-1G>A rs776632604
NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter) rs1555683785
NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del) rs1555732875
NM_198129.4(LAMA3):c.6616-13G>T rs886053672
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu) rs1085308017
NM_198129.4(LAMA3):c.856-2A>G rs757101344
NM_198129.4(LAMA3):c.916G>T (p.Glu306Ter) rs771405735
NM_198129.4(LAMA3):c.9293CCA[1] (p.Thr3099del) rs1555752733
NM_198129.4(LAMA3):c.938del (p.Pro313fs) rs1555684952
NM_198129.4(LAMA3):c.9512-11T>C rs776372744
NM_198129.4(LAMA3):c.9597_9599dup (p.Gly3199_Ser3200insArg) rs750402445
NM_198129.4(LAMA3):c.9848del (p.Gly3283fs) rs1555756067
NM_198129.4(LAMA3):c.9980del (p.Leu3327fs) rs1555756775

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