ClinVar Miner

Variants in gene TCOF1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915

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