ClinVar Miner

List of variants in gene SQSTM1 reported as pathogenic for Paget disease of bone 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001142298.2(SQSTM1):c.972dup (p.Glu325Ter) rs796051869
NM_003900.4(SQSTM1):c.970_1165del rs796051870
NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) rs796052213
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941

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