ClinVar Miner

List of variants reported as pathogenic for Pierre Robin syndrome associated with branchial archs anomalies by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.43_44GT[1] (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957

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