ClinVar Miner

List of variants in gene LAMA3 reported as uncertain significance for Junctional epidermolysis bullosa gravis of Herlitz

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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys) rs61752346 0.00147
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=) rs141472847 0.00103
NM_198129.4(LAMA3):c.5522G>A (p.Arg1841His) rs144475991 0.00098
NM_198129.4(LAMA3):c.5223-13G>C rs145241852 0.00095
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser) rs180795245 0.00092
NM_198129.4(LAMA3):c.5924G>A (p.Arg1975His) rs149809232 0.00080
NM_198129.4(LAMA3):c.7739C>A (p.Thr2580Lys) rs61751705 0.00059
NM_198129.4(LAMA3):c.9400G>C (p.Asp3134His) rs139393524 0.00059
NM_198129.4(LAMA3):c.9241C>T (p.Arg3081Cys) rs35762515 0.00056
NM_198129.4(LAMA3):c.8283G>A (p.Ser2761=) rs146634036 0.00039
NM_198129.4(LAMA3):c.5621T>C (p.Leu1874Ser) rs139348197 0.00036
NM_198129.4(LAMA3):c.7740A>G (p.Thr2580=) rs145848988 0.00033
NM_198129.4(LAMA3):c.7545C>T (p.Pro2515=) rs145460785 0.00031
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser) rs139823161 0.00029
NM_198129.4(LAMA3):c.8773G>A (p.Gly2925Arg) rs112986465 0.00026
NM_198129.4(LAMA3):c.5340C>T (p.Phe1780=) rs138524783 0.00021
NM_198129.4(LAMA3):c.*352A>G rs886053681 0.00019
NM_198129.4(LAMA3):c.8656C>T (p.Arg2886Cys) rs199991488 0.00019
NM_198129.4(LAMA3):c.9209C>T (p.Thr3070Met) rs117056996 0.00019
NM_198129.4(LAMA3):c.8282C>T (p.Ser2761Leu) rs144549206 0.00018
NM_198129.4(LAMA3):c.9165G>A (p.Leu3055=) rs370470226 0.00018
NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln) rs139393175 0.00017
NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His) rs377097479 0.00014
NM_198129.4(LAMA3):c.8107A>G (p.Ile2703Val) rs201093281 0.00014
NM_198129.4(LAMA3):c.8241C>T (p.Val2747=) rs371174542 0.00013
NM_198129.4(LAMA3):c.8664C>T (p.Gly2888=) rs138908985 0.00012
NM_198129.4(LAMA3):c.7465C>T (p.Arg2489Trp) rs147463397 0.00011
NM_198129.4(LAMA3):c.7546G>A (p.Gly2516Arg) rs113624323 0.00011
NM_198129.4(LAMA3):c.7916A>G (p.Glu2639Gly) rs149306119 0.00011
NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His) rs139915002 0.00011
NM_198129.4(LAMA3):c.5169T>C (p.Tyr1723=) rs140561492 0.00010
NM_198129.4(LAMA3):c.5493C>T (p.Asn1831=) rs199982757 0.00010
NM_198129.4(LAMA3):c.9027-14G>A rs372927257 0.00010
NM_198129.4(LAMA3):c.5131G>A (p.Ala1711Thr) rs369226812 0.00009
NM_198129.4(LAMA3):c.9944T>C (p.Val3315Ala) rs371453979 0.00009
NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val) rs150757806 0.00008
NM_198129.4(LAMA3):c.6290C>T (p.Ala2097Val) rs763137413 0.00008
NM_198129.4(LAMA3):c.*375G>C rs1026638700 0.00006
NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter) rs552326056 0.00006
NM_198129.4(LAMA3):c.5304-4G>A rs370409067 0.00005
NM_198129.4(LAMA3):c.*126A>G rs546219784 0.00004
NM_198129.4(LAMA3):c.5410+10A>G rs746263741 0.00004
NM_198129.4(LAMA3):c.5613+13C>T rs766241071 0.00004
NM_198129.4(LAMA3):c.5773C>T (p.Arg1925Trp) rs775241363 0.00004
NM_198129.4(LAMA3):c.6013C>T (p.Arg2005Trp) rs373250558 0.00004
NM_198129.4(LAMA3):c.7181A>G (p.Asn2394Ser) rs201944973 0.00004
NM_198129.4(LAMA3):c.4558G>T (p.Ala1520Ser) rs763626668 0.00003
NM_198129.4(LAMA3):c.6509G>C (p.Arg2170Pro) rs148728856 0.00003
NM_198129.4(LAMA3):c.9475A>G (p.Ile3159Val) rs762966407 0.00003
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_198129.4(LAMA3):c.5997G>A (p.Ser1999=) rs564308785 0.00002
NM_198129.4(LAMA3):c.7336C>T (p.Arg2446Trp) rs746635499 0.00002
NM_198129.4(LAMA3):c.8193G>C (p.Thr2731=) rs762861196 0.00002
NM_198129.4(LAMA3):c.9647C>T (p.Thr3216Met) rs539486931 0.00002
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_198129.4(LAMA3):c.6202-12T>A rs764177904 0.00001
NM_198129.4(LAMA3):c.6574G>A (p.Ala2192Thr) rs202152742 0.00001
NM_198129.4(LAMA3):c.7016-7C>T rs1473466115 0.00001
NM_198129.4(LAMA3):c.7593G>A (p.Leu2531=) rs753332450 0.00001
NM_198129.4(LAMA3):c.7727A>G (p.Asn2576Ser) rs781529313 0.00001
NM_198129.4(LAMA3):c.7845A>G (p.Pro2615=) rs773730834 0.00001
NM_198129.4(LAMA3):c.8204G>A (p.Arg2735Gln) rs201106669 0.00001
NM_198129.4(LAMA3):c.8613T>C (p.Asn2871=) rs1179461242 0.00001
NM_198129.4(LAMA3):c.8657G>A (p.Arg2886His) rs759770267 0.00001
NM_198129.4(LAMA3):c.9589C>T (p.His3197Tyr) rs776515886 0.00001
NM_198129.4(LAMA3):c.9695C>A (p.Pro3232Gln) rs369545352 0.00001
NM_198129.4(LAMA3):c.*48T>A rs886053680
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.5830G>A (p.Val1944Met) rs2080976294
NM_198129.4(LAMA3):c.5848C>G (p.Gln1950Glu) rs886053671
NM_198129.4(LAMA3):c.584T>G (p.Leu195Ter) rs1555683785
NM_198129.4(LAMA3):c.5865T>G (p.Asp1955Glu) rs151037092
NM_198129.4(LAMA3):c.6158A>T (p.Asn2053Ile) rs141145607
NM_198129.4(LAMA3):c.6507G>A (p.Val2169=) rs2081181550
NM_198129.4(LAMA3):c.6532_6534del (p.Ala2178del) rs1555732875
NM_198129.4(LAMA3):c.6616-13G>T rs886053672
NM_198129.4(LAMA3):c.6690C>T (p.Ala2230=) rs886053673
NM_198129.4(LAMA3):c.7080G>A (p.Leu2360=) rs763710322
NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln) rs563440658
NM_198129.4(LAMA3):c.7238A>G (p.Tyr2413Cys) rs2081478735
NM_198129.4(LAMA3):c.7267C>G (p.Pro2423Ala) rs1479257477
NM_198129.4(LAMA3):c.734del (p.Phe245fs) rs1555684238
NM_198129.4(LAMA3):c.7459A>T (p.Met2487Leu) rs1085308017
NM_198129.4(LAMA3):c.7482-5A>C rs780657629
NM_198129.4(LAMA3):c.7519G>A (p.Ala2507Thr) rs187899159
NM_198129.4(LAMA3):c.7590T>C (p.Asn2530=) rs886053674
NM_198129.4(LAMA3):c.7779-8G>C rs2081627708
NM_198129.4(LAMA3):c.7964T>C (p.Met2655Thr) rs1202609679
NM_198129.4(LAMA3):c.8095G>A (p.Val2699Ile) rs886053675
NM_198129.4(LAMA3):c.8138C>T (p.Thr2713Ile) rs745387872
NM_198129.4(LAMA3):c.8278T>G (p.Cys2760Gly) rs886053676
NM_198129.4(LAMA3):c.8327G>A (p.Gly2776Glu) rs886053677
NM_198129.4(LAMA3):c.8381C>T (p.Ser2794Leu) rs2145377026
NM_198129.4(LAMA3):c.839C>T (p.Pro280Leu) rs2143574692
NM_198129.4(LAMA3):c.856-2A>G rs757101344
NM_198129.4(LAMA3):c.8622G>T (p.Arg2874Ser) rs747663607
NM_198129.4(LAMA3):c.8708+4G>A rs200417639
NM_198129.4(LAMA3):c.9011A>G (p.Glu3004Gly) rs2082417119
NM_198129.4(LAMA3):c.9028T>G (p.Ser3010Ala) rs886053678
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.9419C>T (p.Thr3140Ile) rs758888193
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.9735A>T (p.Ala3245=) rs2082923791
NM_198129.4(LAMA3):c.9738C>T (p.Val3246=) rs886053679
NM_198129.4(LAMA3):c.9848del (p.Gly3283fs) rs1555756067
NM_198129.4(LAMA3):c.9937G>C (p.Val3313Leu) rs377024118
NM_198129.4(LAMA3):c.9980del (p.Leu3327fs) rs1555756775

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