ClinVar Miner

List of variants studied for laminopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro) rs1553653993
NM_138711.6(PPARG):c.1271del (p.Pro424fs) rs770557781
NM_138711.6(PPARG):c.380A>G (p.Glu127Gly) rs1553643326
NM_138711.6(PPARG):c.491G>A (p.Arg164Gln) rs148195788
NM_138711.6(PPARG):c.545G>A (p.Arg182Gln) rs1553647989
NM_138711.6(PPARG):c.881T>C (p.Ile294Thr) rs1378972597
NM_138711.6(PPARG):c.924_928del (p.Asp308fs) rs1553650477
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886

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