List of variants in gene PSMB4 studied for autoinflammatory syndrome of childhood

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002796.3(PSMB4):c.495-40T>C	rs2495391	0.97364
NM_002796.3(PSMB4):c.75G>A (p.Pro25=)	rs7172	0.64309
NM_002796.3(PSMB4):c.701T>C (p.Ile234Thr)	rs4603	0.15159
NM_002796.3(PSMB4):c.-9G>A	rs200946642	0.00112
NM_002796.3(PSMB4):c.44dup (p.Pro16fs)	rs1235715459
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg)	rs777632466
NM_002796.3(PSMB4):c.636_644del (p.Asp212_Val214del)	rs1553209362
NM_002796.3(PSMB4):c.666C>A (p.Tyr222Ter)	rs1553209373

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