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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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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.1145dup (p.Leu382fs)
NM_003900.5(SQSTM1):c.1163dup (p.Glu389fs)
NM_003900.5(SQSTM1):c.206-1G>C
NM_003900.5(SQSTM1):c.206-2A>G
NM_003900.5(SQSTM1):c.970-2A>G	rs2113512370

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