ClinVar Miner

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

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_001286734.2(CENPE):c.2722G>A (p.Asp908Asn) rs144716013
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile) rs144251950
NM_018451.5(CENPJ):c.444+3A>G rs587783411
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825

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