ClinVar Miner

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

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852
NM_018451.5(CENPJ):c.1560A>T (p.Thr520=) rs17081368
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216
NM_018451.5(CENPJ):c.1881G>A (p.Pro627=) rs75985315
NM_018451.5(CENPJ):c.2031C>T (p.Ala677=) rs61729909
NM_018451.5(CENPJ):c.253C>A (p.Pro85Thr) rs9511510
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly) rs75008861
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165
NM_018451.5(CENPJ):c.3216+7A>G rs9318917
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CENPJ):c.61A>T (p.Met21Leu) rs35498994
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292

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