ClinVar Miner

List of variants in gene CENPJ reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.2992-18G>T rs67311635 0.00174
NM_018451.5(CENPJ):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_018451.5(CENPJ):c.1409C>T (p.Pro470Leu) rs142535552 0.00058
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CENPJ):c.376A>C (p.Ile126Leu) rs146704811 0.00028
NM_018451.5(CENPJ):c.2470A>T (p.Thr824Ser) rs149885751 0.00025
NM_018451.5(CENPJ):c.1054G>C (p.Glu352Gln) rs376146674 0.00021
NM_018451.5(CENPJ):c.3216+6C>T rs370469967 0.00006
NM_018451.5(CENPJ):c.466A>C (p.Lys156Gln) rs794727515 0.00006
NM_018451.5(CENPJ):c.1834C>T (p.Arg612Trp) rs764657242 0.00003
NM_018451.5(CENPJ):c.2457T>C (p.Tyr819=) rs780573822 0.00001
NM_018451.5(CENPJ):c.3019C>T (p.Arg1007Trp) rs568294978 0.00001
NM_018451.5(CENPJ):c.556T>C (p.Cys186Arg) rs886043933 0.00001
NM_018451.5(CENPJ):c.1288G>C (p.Glu430Gln) rs794727874
NM_018451.5(CENPJ):c.1291C>T (p.Leu431=) rs727503851
NM_018451.5(CENPJ):c.1510A>G (p.Thr504Ala) rs771769227
NM_018451.5(CENPJ):c.236A>G (p.Lys79Arg) rs771706582
NM_018451.5(CENPJ):c.2621A>G (p.Lys874Arg) rs1339069191
NM_018451.5(CENPJ):c.3003_3004delinsAA (p.Gln1002Lys) rs1566283331
NM_018451.5(CENPJ):c.777_786delinsC (p.Ser260_Asn262del) rs1555298479

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