ClinVar Miner

List of variants studied for filamin-related bone disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001457.4(FLNB):c.776C>T (p.Ala259Val) rs376619286 0.00003
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr) rs1557178033 0.00001
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.4726G>T (p.Gly1576Trp)
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser) rs201008265

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