ClinVar Miner

List of variants in gene LMNA reported by Blueprint Genetics,

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Total variants: 27
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HGVS dbSNP
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1086del (p.Leu363fs) rs58389804
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs)
NM_170707.4(LMNA):c.1296_1299GCAC[4] (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1381-5G>A rs730880133
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1579del (p.Arg527fs)
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.263C>G (p.Ala88Gly) rs869025455
NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly) rs869025458
NM_170707.4(LMNA):c.364_366AAG[1] (p.Lys123del) rs794728597
NM_170707.4(LMNA):c.378C>G (p.Asp126Glu) rs869025456
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)
NM_170707.4(LMNA):c.626del (p.Asn209fs) rs62636507
NM_170707.4(LMNA):c.639+9T>C
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.661C>T (p.Arg221Cys) rs869025457
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) rs730880132
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495
NM_170707.4(LMNA):c.917T>G (p.Leu306Arg) rs730882262
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164

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