ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val) rs587777841
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg) rs1684443250
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser) rs1684813071
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys) rs1684813071

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