ClinVar Miner

List of variants in gene LMNA, LOC129931597 studied for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (98):
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu) rs61578124 0.00002
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln) rs751916168 0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His) rs1329278578 0.00001
NM_170707.4(LMNA):c.42G>A (p.Ala14=) rs777460187 0.00001
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu) rs1016767319 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.93G>A (p.Glu31=) rs878855235 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NC_000001.11:g.(?_156114909)_(156115284_?)del
NM_170707.4(LMNA):c.102C>T (p.Asp34=)
NM_170707.4(LMNA):c.103C>T (p.Leu35=)
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.19C>T (p.Arg7Trp) rs1397676761
NM_170707.4(LMNA):c.21G>A (p.Arg7=)
NM_170707.4(LMNA):c.21G>C (p.Arg7=) rs2102816901
NM_170707.4(LMNA):c.22C>A (p.Arg8Ser)
NM_170707.4(LMNA):c.22C>G (p.Arg8Gly) rs1649697783
NM_170707.4(LMNA):c.22C>T (p.Arg8Cys) rs1649697783
NM_170707.4(LMNA):c.24C>A (p.Arg8=) rs1337375663
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
NM_170707.4(LMNA):c.25G>C (p.Ala9Pro)
NM_170707.4(LMNA):c.28A>C (p.Thr10Pro)
NM_170707.4(LMNA):c.28A>T (p.Thr10Ser)
NM_170707.4(LMNA):c.29C>G (p.Thr10Ser)
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
NM_170707.4(LMNA):c.32G>T (p.Arg11Leu) rs1649700040
NM_170707.4(LMNA):c.36C>T (p.Ser12=)
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
NM_170707.4(LMNA):c.40G>A (p.Ala14Thr)
NM_170707.4(LMNA):c.40del (p.Ala14fs)
NM_170707.4(LMNA):c.41C>T (p.Ala14Val)
NM_170707.4(LMNA):c.43C>T (p.Gln15Ter) rs2102817088
NM_170707.4(LMNA):c.44A>C (p.Gln15Pro) rs748918487
NM_170707.4(LMNA):c.44A>G (p.Gln15Arg)
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp) rs770799870
NM_170707.4(LMNA):c.47C>T (p.Ala16Val)
NM_170707.4(LMNA):c.52_53dup (p.Thr19fs) rs1553261855
NM_170707.4(LMNA):c.55A>T (p.Thr19Ser)
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro) rs1649704361
NM_170707.4(LMNA):c.64T>C (p.Ser22Pro)
NM_170707.4(LMNA):c.66G>A (p.Ser22=)
NM_170707.4(LMNA):c.70_71insGCCGGGTGCGCTGTCGCCCA (p.Thr24fs)
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser) rs1195524446
NM_170707.4(LMNA):c.72C>T (p.Thr24=) rs1572331957
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) rs58327533
NM_170707.4(LMNA):c.73C>T (p.Arg25Cys) rs58327533
NM_170707.4(LMNA):c.73del (p.Arg25fs) rs1558115970
NM_170707.4(LMNA):c.74G>A (p.Arg25His)
NM_170707.4(LMNA):c.74G>C (p.Arg25Pro) rs61578124
NM_170707.4(LMNA):c.75C>T (p.Arg25=) rs80356804
NM_170707.4(LMNA):c.76A>G (p.Ile26Val)
NM_170707.4(LMNA):c.80C>G (p.Thr27Ser) rs863225270
NM_170707.4(LMNA):c.80C>T (p.Thr27Ile) rs863225270
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) rs59914820
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_170707.4(LMNA):c.85C>A (p.Leu29Met)
NM_170707.4(LMNA):c.87G>T (p.Leu29=)
NM_170707.4(LMNA):c.88C>G (p.Gln30Glu) rs2102817413
NM_170707.4(LMNA):c.90G>A (p.Gln30=) rs1325971304
NM_170707.4(LMNA):c.91G>A (p.Glu31Lys) rs1228406418
NM_170707.4(LMNA):c.91_92delinsAG (p.Glu31Arg) rs2102817441
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_170707.4(LMNA):c.92A>G (p.Glu31Gly) rs1649709575
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_170707.4(LMNA):c.94A>T (p.Lys32Ter) rs1553261891
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.96GGA[1] (p.Glu33del)
NM_170707.4(LMNA):c.97G>C (p.Glu33Gln)
NM_170707.4(LMNA):c.98A>G (p.Glu33Gly) rs267607614
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821

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