ClinVar Miner

List of variants studied for Seckel syndrome 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 16
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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.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406 0.00050
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825 0.00043
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691 0.00036
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala) rs41306027 0.00032
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg) rs141237492 0.00023
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter) rs201822162 0.00003
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu) rs201219786 0.00003
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_018451.5(CENPJ):c.2429A>T (p.Asp810Val) rs1021045841 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808

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