ClinVar Miner

List of variants studied for Bruck syndrome 1 by 3billion

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) rs387906960 0.00001
NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter) rs2144041488
NM_021939.4(FKBP10):c.138C>G (p.Ile46Met)

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