ClinVar Miner

List of variants in gene TCOF1 reported as uncertain significance for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000356.3(TCOF1):c.4146_4148delGAA (p.Lys1383del) rs151344581
NM_001135243.1(TCOF1):c.1379G>T (p.Gly460Val)
NM_001135243.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293
NM_001135243.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592
NM_001135243.1(TCOF1):c.3680C>T (p.Ser1227Phe) rs1554079581
NM_001135243.1(TCOF1):c.3883A>G (p.Ile1295Val)
NM_001135243.1(TCOF1):c.4358A>G (p.Glu1453Gly)
NM_001135243.1(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_001135243.1(TCOF1):c.835A>G (p.Ser279Gly)
NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843

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