ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016175.4(MRNIP):c.538-30C>A rs1065154 0.67053
NM_016175.4(MRNIP):c.692A>G (p.Gln231Arg) rs10277 0.64148
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_003900.5(SQSTM1):c.755-23G>A rs2241349 0.32312
NM_003900.5(SQSTM1):c.*539T>G rs1060271 0.04634
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=) rs10058037 0.03284
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01636
NM_003900.5(SQSTM1):c.*279C>G rs11548631 0.01439
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys) rs61748794 0.01418
NM_003900.5(SQSTM1):c.-25G>A rs74523483 0.01321
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374

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