ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001042384.2(CEP63):c.930-1G>A rs752207334
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454
NM_020921.3(NIN):c.2482del (p.Arg828fs) rs747680111

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