ClinVar Miner

List of variants reported as uncertain significance for Nakajo-Nishimura syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 19
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NM_148919.4(PSMB8):c.167_168delinsGT (p.Ser56Cys) rs1562352512
NM_148919.4(PSMB8):c.229G>A (p.Ala77Thr) rs774341327
NM_148919.4(PSMB8):c.240C>G (p.Phe80Leu)
NM_148919.4(PSMB8):c.295A>G (p.Ser99Gly) rs1381795628
NM_148919.4(PSMB8):c.306_307delinsAA (p.Val103Met)
NM_148919.4(PSMB8):c.371G>C (p.Cys124Ser)
NM_148919.4(PSMB8):c.386G>T (p.Arg129Leu) rs369078226
NM_148919.4(PSMB8):c.515T>C (p.Met172Thr)
NM_148919.4(PSMB8):c.517A>G (p.Ile173Val)
NM_148919.4(PSMB8):c.633G>A (p.Met211Ile) rs137937891
NM_148919.4(PSMB8):c.670G>T (p.Ala224Ser) rs114636648
NM_148919.4(PSMB8):c.695T>C (p.Ile232Thr)
NM_148919.4(PSMB8):c.701A>G (p.Tyr234Cys) rs55853041
NM_148919.4(PSMB8):c.715G>A (p.Asp239Asn) rs1554238810
NM_148919.4(PSMB8):c.731G>A (p.Gly244Asp) rs200995701
NM_148919.4(PSMB8):c.755A>C (p.Lys252Thr)
NM_148919.4(PSMB8):c.800T>G (p.Leu267Arg) rs1554238585
NM_148919.4(PSMB8):c.814C>T (p.Arg272Trp) rs371006338
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668

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