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: 28
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 5q32(chr5:150368321-150396843)x3
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) rs1763212034
NM_001371623.1(TCOF1):c.1278+1G>A rs886041506
NM_001371623.1(TCOF1):c.1545del (p.Leu517fs) rs2150714943
NM_001371623.1(TCOF1):c.1923_1924dup (p.Lys642fs) rs1554137113
NM_001371623.1(TCOF1):c.1978C>T (p.Arg660Ter)
NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter) rs896979080
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs) rs2150736647
NM_001371623.1(TCOF1):c.2140C>T (p.Gln714Ter) rs769931291
NM_001371623.1(TCOF1):c.2244dup (p.Pro749fs)
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) rs1554137531
NM_001371623.1(TCOF1):c.2286_2287del (p.Ser764fs) rs886041672
NM_001371623.1(TCOF1):c.2490_2499del (p.Val831fs) rs1581138487
NM_001371623.1(TCOF1):c.2675_2678delinsGCTGCCTTGGCT (p.Lys892fs) rs1064796835
NM_001371623.1(TCOF1):c.2796_2797del (p.Gly933fs) rs1554138819
NM_001371623.1(TCOF1):c.3031C>T (p.Gln1011Ter) rs1554077988
NM_001371623.1(TCOF1):c.3163C>T (p.Gln1055Ter)
NM_001371623.1(TCOF1):c.3757_3760del (p.Ala1253fs) rs1057517834
NM_001371623.1(TCOF1):c.384_385del (p.Glu128fs) rs2150554560
NM_001371623.1(TCOF1):c.3963_3964del (p.Glu1322fs) rs1064796606
NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs) rs1554080460
NM_001371623.1(TCOF1):c.4132_4133del (p.Val1378fs) rs1554080589
NM_001371623.1(TCOF1):c.4139dup (p.Glu1381fs) rs1581224984
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs) rs1561540623
NM_001371623.1(TCOF1):c.4360_4363del (p.Glu1454fs) rs1554081112
NM_001371623.1(TCOF1):c.4367_4368del (p.Lys1456fs) rs587776585
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.648del (p.Ser217fs) rs2150623550

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