List of variants in gene SQSTM1 studied for myopathy, distal, with rimmed vacuoles

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.984G>A (p.Ser328=)	rs146164139	0.00374
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=)	rs75700262	0.00052
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)	rs143511494	0.00006
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)	rs758090054	0.00003
NM_003900.5(SQSTM1):c.1165+1G>A	rs796051870	0.00001
NM_003900.5(SQSTM1):c.970del	rs758377403

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