ClinVar Miner

List of variants in gene CENPJ reported by GeneReviews

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
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.452A>G (p.Glu151Gly) rs34177811 0.00039
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_018451.5(CENPJ):c.18del (p.Ser7fs) rs199422202
NM_018451.5(CENPJ):c.2678A>C (p.Gln893Pro) rs41306029
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs) rs199422203
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994

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