ClinVar Miner

List of variants in gene CENPJ reported as likely benign for Seckel syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197

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