ClinVar Miner

List of variants in gene LAMC2 reported as pathogenic for not provided

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Gene type:
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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_005562.3(LAMC2):c.1350C>A (p.Tyr450Ter) rs201308300 0.00002
NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) rs118203901 0.00002
NM_005562.3(LAMC2):c.1009C>T (p.Arg337Ter) rs761475328 0.00001
NM_005562.3(LAMC2):c.1045C>T (p.Arg349Ter) rs772306395 0.00001
NM_005562.3(LAMC2):c.1711C>T (p.Arg571Ter) rs761388039 0.00001
NM_005562.3(LAMC2):c.3454C>T (p.Gln1152Ter) rs1217053724 0.00001
NM_005562.3(LAMC2):c.405-2A>G rs1375079650 0.00001
NM_005562.3(LAMC2):c.508C>T (p.Arg170Ter) rs781458974 0.00001
NC_000001.10:g.(?_183155488)_(183177214_?)del
NC_000001.10:g.(?_183212272)_(183212545_?)del
NC_000001.11:g.(?_183186343)_(183186441_?)del
NM_005562.3(LAMC2):c.1002del (p.Phe334fs) rs2102228165
NM_005562.3(LAMC2):c.1164C>A (p.Tyr388Ter)
NM_005562.3(LAMC2):c.1171C>T (p.Gln391Ter) rs1659639732
NM_005562.3(LAMC2):c.1175del (p.Phe392fs)
NM_005562.3(LAMC2):c.1211C>G (p.Ser404Ter)
NM_005562.3(LAMC2):c.1220_1221del (p.Leu407fs)
NM_005562.3(LAMC2):c.1285G>T (p.Gly429Ter) rs2102230512
NM_005562.3(LAMC2):c.1321G>T (p.Glu441Ter)
NM_005562.3(LAMC2):c.134_137del (p.Arg45fs) rs1057516806
NM_005562.3(LAMC2):c.136C>T (p.Gln46Ter) rs2102196403
NM_005562.3(LAMC2):c.1386_1396delinsAACCGC (p.Cys462_Asn466delinsTer) rs1571530029
NM_005562.3(LAMC2):c.1432del (p.Glu478fs) rs1659669242
NM_005562.3(LAMC2):c.146_150dup (p.Phe51fs) rs1057517353
NM_005562.3(LAMC2):c.1515del (p.Phe505fs) rs2102233137
NM_005562.3(LAMC2):c.1584_1585del (p.Gly529fs)
NM_005562.3(LAMC2):c.1597del (p.Arg533fs) rs2102233308
NM_005562.3(LAMC2):c.1659C>A (p.Cys553Ter) rs118203900
NM_005562.3(LAMC2):c.1721dup (p.Asn574fs)
NM_005562.3(LAMC2):c.1756C>T (p.Arg586Ter)
NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) rs1553266871
NM_005562.3(LAMC2):c.1843C>T (p.Gln615Ter)
NM_005562.3(LAMC2):c.1849A>T (p.Lys617Ter) rs2102237469
NM_005562.3(LAMC2):c.1861dup (p.Asp621fs) rs1659819062
NM_005562.3(LAMC2):c.1881_1968dup (p.Glu657delinsSerGluAsnGlyGlyProAspPheLysGlySerGlyTrpTer)
NM_005562.3(LAMC2):c.1924G>T (p.Gly642Ter)
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs) rs778012079
NM_005562.3(LAMC2):c.2023A>T (p.Arg675Ter) rs2102239935
NM_005562.3(LAMC2):c.2038C>T (p.Gln680Ter)
NM_005562.3(LAMC2):c.2074C>T (p.Gln692Ter) rs1659836821
NM_005562.3(LAMC2):c.2131C>T (p.Gln711Ter) rs1571535301
NM_005562.3(LAMC2):c.2143C>T (p.Arg715Ter) rs1035597347
NM_005562.3(LAMC2):c.2154_2161del (p.Asp718fs)
NM_005562.3(LAMC2):c.2208del (p.Leu737fs)
NM_005562.3(LAMC2):c.2244C>G (p.Tyr748Ter) rs368391322
NM_005562.3(LAMC2):c.2283del (p.Thr762fs)
NM_005562.3(LAMC2):c.2341G>T (p.Glu781Ter) rs1659930803
NM_005562.3(LAMC2):c.2348del (p.Glu783fs) rs776142807
NM_005562.3(LAMC2):c.2362C>T (p.Gln788Ter)
NM_005562.3(LAMC2):c.2420del (p.Ser807fs) rs2102245341
NM_005562.3(LAMC2):c.2423del (p.Pro808fs) rs2102245377
NM_005562.3(LAMC2):c.2425del (p.Asp809fs)
NM_005562.3(LAMC2):c.2426del (p.Asp809fs)
NM_005562.3(LAMC2):c.2464A>T (p.Lys822Ter)
NM_005562.3(LAMC2):c.2489dup (p.Leu830fs) rs774734592
NM_005562.3(LAMC2):c.2511_2572del (p.Glu838fs) rs2102247050
NM_005562.3(LAMC2):c.2563_2564insA (p.Val855fs)
NM_005562.3(LAMC2):c.2565del (p.Ser856fs) rs2102247202
NM_005562.3(LAMC2):c.258dup (p.Asn87Ter) rs2102196755
NM_005562.3(LAMC2):c.2595del (p.Gln867fs)
NM_005562.3(LAMC2):c.2615del (p.Lys872fs)
NM_005562.3(LAMC2):c.2705G>A (p.Trp902Ter) rs2102248662
NM_005562.3(LAMC2):c.2747_2748del (p.Gly916fs)
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter) rs80356683
NM_005562.3(LAMC2):c.2842del (p.Val948fs)
NM_005562.3(LAMC2):c.2857A>T (p.Lys953Ter) rs2102250197
NM_005562.3(LAMC2):c.2881C>T (p.Gln961Ter) rs1660058817
NM_005562.3(LAMC2):c.3178dup (p.Leu1060fs)
NM_005562.3(LAMC2):c.3296_3297del (p.Leu1099fs) rs2102253629
NM_005562.3(LAMC2):c.3328+1G>A rs1475860578
NM_005562.3(LAMC2):c.3357del (p.Leu1120fs) rs1057516473
NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) rs1660173338
NM_005562.3(LAMC2):c.3373C>T (p.Gln1125Ter) rs1356003109
NM_005562.3(LAMC2):c.3385C>T (p.Arg1129Ter) rs201307156
NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter) rs149930148
NM_005562.3(LAMC2):c.405-1G>A rs1558088792
NM_005562.3(LAMC2):c.441_442del (p.Gly148fs)
NM_005562.3(LAMC2):c.497_501dup (p.Arg168fs)
NM_005562.3(LAMC2):c.537del (p.Asn180fs) rs745512079
NM_005562.3(LAMC2):c.539del (p.Asn180fs) rs1558089869
NM_005562.3(LAMC2):c.618_619del (p.Lys206fs)
NM_005562.3(LAMC2):c.653G>A (p.Trp218Ter)
NM_005562.3(LAMC2):c.664C>T (p.Gln222Ter) rs2102222177
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_005562.3(LAMC2):c.675dup (p.Ser226fs)
NM_005562.3(LAMC2):c.725C>G (p.Ser242Ter) rs2102222351
NM_005562.3(LAMC2):c.745_748del (p.Val249fs) rs2102222423
NM_005562.3(LAMC2):c.787del (p.Gln262_Val263insTer) rs1659523218
NM_005562.3(LAMC2):c.799C>T (p.Gln267Ter)
NM_005562.3(LAMC2):c.945C>G (p.Tyr315Ter) rs1659531274
NM_005562.3(LAMC2):c.961del (p.Glu321fs)

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