ClinVar Miner

List of variants studied for filamin-related bone disorder by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001110556.2(FLNA):c.289C>T (p.Pro97Ser)
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627
NM_145331.3(MAP3K7):c.815C>A (p.Ser272Tyr) rs2127974446

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