List of variants studied for Seckel syndrome 4 by Genetic Services Laboratory, University of Chicago

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His)	rs201088712	0.00020
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)	rs797045450	0.00001
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.3007dup (p.Ile1003fs)	rs797045452
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup)	rs776528706
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)	rs797045454

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