ClinVar Miner

List of variants in gene LAMC2 reported as uncertain significance for Junctional epidermolysis bullosa

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005562.3(LAMC2):c.*275A>C rs183342651 0.00455
NM_005562.3(LAMC2):c.*1398C>T rs564740740 0.00237
NM_005562.3(LAMC2):c.1637C>A (p.Ala546Asp) rs140949383 0.00177
NM_005562.3(LAMC2):c.*405C>T rs148313302 0.00173
NM_005562.3(LAMC2):c.3459G>A (p.Arg1153=) rs140649374 0.00150
NM_005562.3(LAMC2):c.884G>A (p.Arg295Gln) rs141901570 0.00132
NM_005562.3(LAMC2):c.80-6C>T rs78056473 0.00117
NM_005562.3(LAMC2):c.*200G>A rs114356159 0.00114
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) rs146325169 0.00114
NM_005562.3(LAMC2):c.2387C>T (p.Ala796Val) rs139718245 0.00106
NM_005562.3(LAMC2):c.*1617A>G rs532073148 0.00088
NM_005562.3(LAMC2):c.2681G>A (p.Arg894His) rs146907099 0.00081
NM_005562.3(LAMC2):c.3354G>A (p.Glu1118=) rs149718832 0.00081
NM_005562.3(LAMC2):c.*1686G>A rs540729716 0.00078
NM_005562.3(LAMC2):c.2634G>A (p.Ala878=) rs148925665 0.00076
NM_005562.3(LAMC2):c.2892C>T (p.Asn964=) rs147657304 0.00073
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val) rs147889360 0.00061
NM_005562.3(LAMC2):c.*1053C>T rs575918658 0.00053
NM_005562.3(LAMC2):c.599C>A (p.Ala200Glu) rs138266625 0.00042
NM_005562.3(LAMC2):c.*630C>G rs141968850 0.00041
NM_005562.3(LAMC2):c.1147A>G (p.Ile383Val) rs199729402 0.00021
NM_005562.3(LAMC2):c.*1008C>T rs886045635 0.00016
NM_005562.3(LAMC2):c.1422G>A (p.Pro474=) rs148065050 0.00016
NM_005562.3(LAMC2):c.954-15T>C rs370813334 0.00014
NM_005562.3(LAMC2):c.1555T>C (p.Cys519Arg) rs139464408 0.00013
NM_005562.3(LAMC2):c.503+6T>C rs375623003 0.00013
NM_005562.3(LAMC2):c.2014+12C>A rs370051807 0.00012
NM_005562.3(LAMC2):c.2777G>A (p.Arg926His) rs201251711 0.00012
NM_005562.3(LAMC2):c.*1482A>G rs377075989 0.00011
NM_005562.3(LAMC2):c.3246G>A (p.Gln1082=) rs138728557 0.00011
NM_005562.3(LAMC2):c.795T>C (p.Tyr265=) rs201246173 0.00011
NM_005562.3(LAMC2):c.*297C>A rs886045631 0.00010
NM_005562.3(LAMC2):c.1074G>A (p.Gly358=) rs145811533 0.00009
NM_005562.3(LAMC2):c.*1031A>G rs1179352123 0.00008
NM_005562.3(LAMC2):c.590G>A (p.Arg197His) rs376553923 0.00007
NM_005562.3(LAMC2):c.*986T>A rs536483830 0.00006
NM_005562.3(LAMC2):c.3273T>G (p.Ala1091=) rs201445121 0.00006
NM_005562.3(LAMC2):c.1036C>G (p.Leu346Val) rs754799907 0.00005
NM_005562.3(LAMC2):c.503+14G>A rs372097432 0.00005
NM_005562.3(LAMC2):c.*1637G>A rs886045643 0.00004
NM_005562.3(LAMC2):c.1597C>T (p.Arg533Trp) rs1029109781 0.00004
NM_005562.3(LAMC2):c.3033C>T (p.Ala1011=) rs771520608 0.00004
NM_005562.3(LAMC2):c.*1021C>T rs987683532 0.00003
NM_005562.3(LAMC2):c.*816A>T rs886045634 0.00003
NM_005562.3(LAMC2):c.1215G>A (p.Ala405=) rs774558289 0.00003
NM_005562.3(LAMC2):c.2081G>A (p.Arg694His) rs142509506 0.00003
NM_005562.3(LAMC2):c.3448C>T (p.Arg1150Cys) rs779406247 0.00003
NM_005562.3(LAMC2):c.*1674T>A rs886045645 0.00002
NM_005562.3(LAMC2):c.*846T>C rs1482045103 0.00002
NM_005562.3(LAMC2):c.*976C>A rs937726448 0.00002
NM_005562.3(LAMC2):c.1066A>G (p.Ser356Gly) rs747095585 0.00002
NM_005562.3(LAMC2):c.1268C>A (p.Ala423Asp) rs886045626 0.00002
NM_005562.3(LAMC2):c.1675G>A (p.Gly559Arg) rs555090268 0.00002
NM_005562.3(LAMC2):c.2555T>C (p.Leu852Pro) rs376232873 0.00002
NM_005562.3(LAMC2):c.*1059G>A rs886045637 0.00001
NM_005562.3(LAMC2):c.*1456T>C rs886045642 0.00001
NM_005562.3(LAMC2):c.*1647A>G rs886045644 0.00001
NM_005562.3(LAMC2):c.*1700G>A rs1159161006 0.00001
NM_005562.3(LAMC2):c.2221-1G>A rs1558096586 0.00001
NM_005562.3(LAMC2):c.2418T>A (p.Gly806=) rs553672320 0.00001
NM_005562.3(LAMC2):c.2456+15G>A rs532836837 0.00001
NM_005562.3(LAMC2):c.2545C>T (p.Leu849Phe) rs1244239473 0.00001
NM_005562.3(LAMC2):c.3449G>A (p.Arg1150His) rs748464019 0.00001
NM_005562.3(LAMC2):c.461G>A (p.Arg154His) rs774844905 0.00001
NM_005562.3(LAMC2):c.80T>C (p.Val27Ala) rs772538256 0.00001
NM_005562.3(LAMC2):c.*1033AT[2] rs886045636
NM_005562.3(LAMC2):c.*1066G>C rs886045638
NM_005562.3(LAMC2):c.*1067C>T rs886045639
NM_005562.3(LAMC2):c.*1138T>C rs1313225593
NM_005562.3(LAMC2):c.*1139A>T rs192080195
NM_005562.3(LAMC2):c.*1199G>A rs886045640
NM_005562.3(LAMC2):c.*1244C>G rs542862063
NM_005562.3(LAMC2):c.*1265G>C rs886045641
NM_005562.3(LAMC2):c.*1650A>G rs919395948
NM_005562.3(LAMC2):c.*400T>C rs886045632
NM_005562.3(LAMC2):c.*593A>G rs886045633
NM_005562.3(LAMC2):c.1032A>C (p.Thr344=) rs1659605215
NM_005562.3(LAMC2):c.1259G>C (p.Gly420Ala) rs763994158
NM_005562.3(LAMC2):c.1286-4C>T rs944567230
NM_005562.3(LAMC2):c.2529G>C (p.Arg843Ser) rs762064570
NM_005562.3(LAMC2):c.2658C>G (p.Thr886=) rs1659999214
NM_005562.3(LAMC2):c.2994G>C (p.Gly998=) rs1660064320
NM_005562.3(LAMC2):c.3158T>A (p.Met1053Lys) rs570770124
NM_005562.3(LAMC2):c.3166G>A (p.Val1056Met) rs886045627
NM_005562.3(LAMC2):c.3346G>T (p.Asp1116Tyr) rs886045628
NM_005562.3(LAMC2):c.3411A>G (p.Gln1137=) rs886045629
NM_005562.3(LAMC2):c.3503C>A (p.Ala1168Asp) rs886045630
NM_005562.3(LAMC2):c.739G>C (p.Asp247His) rs773715293

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