ClinVar Miner

List of variants in gene LMNA reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
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.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493
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.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
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.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.1756G>A (p.Val586Met) rs758048062
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) rs140455668
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.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.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.571G>A (p.Val191Met) rs879253896
NM_170707.4(LMNA):c.583A>C (p.Asn195His)
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.749C>T (p.Ala250Val) rs397517907
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364
NM_170707.4(LMNA):c.864_867del (p.His289fs) rs60168366
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.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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