ClinVar Miner

List of variants studied for canthal anomaly by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
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.45_46del (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472

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