ClinVar Miner

List of variants studied for Bruck syndrome 1

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_021939.4(FKBP10):c.1256+14G>C rs202121419 0.00906
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
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.337G>A (p.Glu113Lys) rs397514674 0.00001
NM_021939.4(FKBP10):c.344G>A (p.Arg115Gln) rs387906960 0.00001
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val) rs794727669
NM_021939.4(FKBP10):c.1016_1023dup (p.Thr342fs)
NM_021939.4(FKBP10):c.124G>T (p.Glu42Ter) rs2144041488
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_021939.4(FKBP10):c.1256+8C>G rs1206061120
NM_021939.4(FKBP10):c.1271_1272delinsA (p.Ala424fs) rs397509383
NM_021939.4(FKBP10):c.1276dup (p.Gln426fs) rs1567856056
NM_021939.4(FKBP10):c.138C>G (p.Ile46Met)
NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro) rs2144041758
NM_021939.4(FKBP10):c.743dup (p.Gln249fs) rs1555616552
NM_021939.4(FKBP10):c.831dup (p.Gly278fs) rs137853883
NM_021939.4(FKBP10):c.877_879del (p.Tyr293del) rs869320752
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132

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