List of variants reported as uncertain significance for autosomal recessive disease by Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_148919.4(PSMB8):c.385C>T (p.Arg129Cys)	rs757343575	0.00001
NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn)	rs1769994178

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