ClinVar Miner

List of variants in gene TCOF1 reported as benign for Treacher-Collins syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000356.4(TCOF1):c.1047+60G>C rs143713714
NM_000356.4(TCOF1):c.2628+3303G>A rs112447402
NM_000356.4(TCOF1):c.305-52A>G rs41287124
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4209+108C>A rs111365835
NM_000356.4(TCOF1):c.852+39G>A rs56113366
NM_001371623.1(TCOF1):c.4087_4089AAG[4] (p.Lys1367del)

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