ClinVar Miner

List of variants in gene TCOF1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 15
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HGVS dbSNP
GRCh38/hg38 5q32(chr5:150368321-150396843)x3
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1692_1693dup (p.Lys565fs) rs1554137113
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
NM_000356.4(TCOF1):c.1909C>T (p.Gln637Ter) rs769931291
NM_000356.4(TCOF1):c.2055_2056del (p.Ser687fs) rs886041672
NM_000356.4(TCOF1):c.2444_2447delinsGCTGCCTTGGCT (p.Lys815fs) rs1064796835
NM_000356.4(TCOF1):c.2800C>T (p.Gln934Ter) rs1554077988
NM_000356.4(TCOF1):c.3523_3526del (p.Ala1175fs) rs1057517834
NM_000356.4(TCOF1):c.3729_3730del (p.Glu1244fs) rs1064796606
NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) rs1554080460
NM_000356.4(TCOF1):c.3898_3899del (p.Val1300fs) rs1554080589
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4133_4134del (p.Lys1378fs) rs587776585
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582

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