ClinVar Miner

List of variants studied for laminopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
NM_000117.3(EMD):c.116_143del (p.Phe39fs) rs1569552080
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.1961dup (p.Thr655fs) rs863225024
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln) rs886043109
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter) rs2086610889
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501

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