ClinVar Miner

List of variants reported as likely benign for Paget disease of bone 3

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_016175.4(MRNIP):c.*12C>T rs73334055 0.01186
NM_016175.4(MRNIP):c.729C>T (p.Asp243=) rs61742526 0.01155
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00943
NM_003900.5(SQSTM1):c.*83G>A rs155790 0.00589
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00057
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_003900.5(SQSTM1):c.*66A>C rs140407570 0.00016
NM_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
NM_016175.4(MRNIP):c.719C>G (p.Ser240Ter) rs199887787 0.00001

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