ClinVar Miner

List of variants studied for Nakajo-Nishimura syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP
NM_148919.3(PSMB8):c.167_168delCCinsGT (p.Ser56Cys)
NM_148919.3(PSMB8):c.192C>T (p.Asn64=) rs79482999
NM_148919.3(PSMB8):c.220A>T (p.Thr74Ser) rs17220206
NM_148919.3(PSMB8):c.222C>A (p.Thr74=) rs116638337
NM_148919.3(PSMB8):c.229G>A (p.Ala77Thr)
NM_148919.3(PSMB8):c.22G>A (p.Gly8Arg) rs114772012
NM_148919.3(PSMB8):c.295A>G (p.Ser99Gly)
NM_148919.3(PSMB8):c.386G>T (p.Arg129Leu) rs369078226
NM_148919.3(PSMB8):c.483G>A (p.Gln161=) rs41270492
NM_148919.3(PSMB8):c.501C>T (p.Leu167=) rs11540143
NM_148919.3(PSMB8):c.538-10C>T rs923980627
NM_148919.3(PSMB8):c.633G>A (p.Met211Ile)
NM_148919.3(PSMB8):c.670G>T (p.Ala224Ser)
NM_148919.3(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041
NM_148919.3(PSMB8):c.715G>A (p.Asp239Asn) rs1554238810
NM_148919.3(PSMB8):c.731G>A (p.Gly244Asp)
NM_148919.3(PSMB8):c.732C>T (p.Gly244=) rs78909544
NM_148919.3(PSMB8):c.800T>G (p.Leu267Arg) rs1554238585
NM_148919.3(PSMB8):c.814C>T (p.Arg272Trp)
NM_148919.3(PSMB8):c.815G>A (p.Arg272Gln) rs368551668

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