ClinVar Miner

List of variants in gene LMNA reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 27
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HGVS dbSNP
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys) rs267607545
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) rs57983345
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1488+1G>A rs267607640
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.1582A>C (p.Thr528Pro) rs1187380696
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.162_163del (p.Asn56fs) rs879253932
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.356+1G>C rs794728589
NM_170707.4(LMNA):c.48del (p.Ser17fs) rs794726921
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483
NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs) rs886043745
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) rs797044758
NM_170707.4(LMNA):c.904_905CT[2] (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554

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