ClinVar Miner

List of variants studied for filamin-related bone disorder by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser) rs2148119164
NM_001457.4(FLNB):c.4229C>G (p.Pro1410Arg) rs2107204256
NM_001457.4(FLNB):c.4550C>A (p.Ala1517Asp) rs372940610
NM_001457.4(FLNB):c.4570G>A (p.Gly1524Ser) rs2107220190
NM_001457.4(FLNB):c.591T>A (p.Asn197Lys) rs1274950884

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