ClinVar Miner

List of variants reported as pathogenic for bone Paget disease by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_002546.4(TNFRSF11B):c.349T>C (p.Phe117Leu) rs104894092 0.00003
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NC_000008.11:g.(118690580_118696647)_(118950613_118950848)del
NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro) rs200071478
NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr) rs104894091
NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del) rs796051868
NM_002546.4(TNFRSF11B):c.966_969delinsCTT (p.Asp323fs) rs2129878039
NM_003839.4(TNFRSF11A):c.39_65dup (p.Leu14_Ala22dup) rs796051862
NM_003839.4(TNFRSF11A):c.49_63dup (p.Leu17_Leu21dup) rs1555767678
NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) rs796052213
NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter) rs796051869
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020832.3(ZNF687):c.725G>T (p.Ser242Ile) rs869025582
nsv513786

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