ClinVar Miner

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

Included ClinVar conditions (130):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1698+13C>T rs80338938
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.1908C>T (p.Ser636=) rs80356814
NM_170707.4(LMNA):c.1928C>A (p.Thr643Asn)
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
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.99G>T (p.Glu33Asp) rs57966821

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