ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu) rs139844197 0.00140
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu) rs79951875 0.00096
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg) rs78628025 0.00094
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg) rs138675304 0.00021
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met) rs193181742 0.00014

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