ClinVar Miner

List of variants reported as uncertain significance for Bruck syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) rs138281924 0.00120
NM_021939.4(FKBP10):c.1003A>G (p.Met335Val) rs369599375 0.00008
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser) rs140950528 0.00008
NM_021939.4(FKBP10):c.1149G>T (p.Arg383Ser) rs782220242 0.00002
NM_021939.4(FKBP10):c.1256+8C>G rs1206061120
NM_021939.4(FKBP10):c.138C>G (p.Ile46Met)

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