ClinVar Miner

List of variants in gene TCOF1 reported as not provided for Treacher-Collins syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.1598C>T (p.Thr533Ile) rs377521530 0.00003
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) rs1763212034
NM_001371623.1(TCOF1):c.2490del (p.Pro830_Val831insTer)
NM_001371623.1(TCOF1):c.2853dup (p.Ala952fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582

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