ClinVar Miner

List of variants in gene SQSTM1 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln) rs1391182750 0.00001
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) rs771966860 0.00001
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) rs886039782 0.00001
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter) rs1185406298 0.00001
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) rs765610848
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) rs796052213
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs) rs1758558921
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter) rs1254158201
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) rs1247551175
NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter) rs796051869
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter) rs1425863340
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
NM_003900.5(SQSTM1):c.301+1G>T rs2113485289
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
NM_003900.5(SQSTM1):c.415del (p.Arg139fs) rs2113487920
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) rs1331685476
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
NM_003900.5(SQSTM1):c.810del (p.Val271fs) rs1758316662
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs) rs1273214757
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)

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