ClinVar Miner

List of variants in gene LMNA studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_001282625.2(LMNA):c.-206-17C>T
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1157+15C>T
NM_170707.4(LMNA):c.1157+16G>A rs534807
NM_170707.4(LMNA):c.1157+19G>A rs757715731
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901
NM_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488+8G>A rs762836610
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1489-16C>G
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg) rs1572366516
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419
NM_170707.4(LMNA):c.1696C>G (p.His566Asp) rs1195284382
NM_170707.4(LMNA):c.1698+13C>T rs80338938
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1698+83G>A
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.1699-8C>G rs727503137
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) rs140455668
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn) rs777900936
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
NM_170707.4(LMNA):c.1968+18dup
NM_170707.4(LMNA):c.1969-4T>C rs751715969
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.4(LMNA):c.356+12C>A
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.571G>A (p.Val191Met) rs879253896
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556
NM_170707.4(LMNA):c.583A>C (p.Asn195His)
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.810+12C>T rs746914371
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.864_867del (p.His289fs) rs60168366
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.4(LMNA):c.897C>G (p.Ile299Met) rs762718963
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_170707.4(LMNA):c.937-7C>G rs267607681
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) rs57966821

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