ClinVar Miner

List of variants studied for laminopathy by MGZ Medical Genetics Center

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_002296.4(LBR):c.284G>A (p.Arg95His) rs371428900 0.00014
NM_002296.4(LBR):c.991C>T (p.Leu331Phe) rs201609720 0.00008
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp) rs772761179 0.00003
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
NM_170707.4(LMNA):c.1040A>G (p.Glu347Gly) rs1449688220
NM_170707.4(LMNA):c.1068_1075dup (p.Tyr359fs)
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_182914.3(SYNE2):c.13583A>G (p.Asn4528Ser)

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