ClinVar Miner

Variants in gene LMNA with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.1003del (p.Arg335fs) rs1553265660
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912

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