ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_004159.5(PSMB8):c.180C>T (p.Asn60=) rs79482999
NM_004159.5(PSMB8):c.208A>T (p.Thr70Ser) rs17220206
NM_004159.5(PSMB8):c.210C>A (p.Thr70=) rs116638337
NM_004159.5(PSMB8):c.471G>A (p.Gln157=) rs41270492
NM_004159.5(PSMB8):c.489C>T (p.Leu163=) rs11540143
NM_004159.5(PSMB8):c.720C>T (p.Gly240=) rs78909544
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012

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