ClinVar Miner

List of variants studied for laminopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln) rs148195788

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