ClinVar Miner

List of variants in gene TUBGCP4 reported as pathogenic for not provided

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) rs794726855 0.00004
NM_014444.5(TUBGCP4):c.1615C>T (p.Gln539Ter) rs1327512768 0.00001
NM_014444.5(TUBGCP4):c.679_680del (p.Ile227fs) rs750641485 0.00001
NM_014444.5(TUBGCP4):c.889+2T>C rs772200785 0.00001
NM_014444.5(TUBGCP4):c.1080_1081del (p.Phe360fs)
NM_014444.5(TUBGCP4):c.1102del (p.Leu368fs)
NM_014444.5(TUBGCP4):c.1192C>T (p.Gln398Ter) rs2044596519
NM_014444.5(TUBGCP4):c.1196C>A (p.Ser399Ter)
NM_014444.5(TUBGCP4):c.1288C>T (p.Gln430Ter)
NM_014444.5(TUBGCP4):c.1434dup (p.Lys479Ter)
NM_014444.5(TUBGCP4):c.1609dup (p.Glu537fs) rs2142883686
NM_014444.5(TUBGCP4):c.1636C>T (p.Gln546Ter) rs2142883806
NM_014444.5(TUBGCP4):c.1651C>T (p.Arg551Ter) rs751545508
NM_014444.5(TUBGCP4):c.1669C>T (p.Arg557Ter) rs755822321
NM_014444.5(TUBGCP4):c.216dup (p.Pro73fs)
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter) rs2142767103
NM_014444.5(TUBGCP4):c.304C>T (p.Gln102Ter)
NM_014444.5(TUBGCP4):c.556C>T (p.Gln186Ter) rs1281303824
NM_014444.5(TUBGCP4):c.56G>A (p.Trp19Ter)
NM_014444.5(TUBGCP4):c.595C>T (p.Gln199Ter)
NM_014444.5(TUBGCP4):c.61A>T (p.Lys21Ter)
NM_014444.5(TUBGCP4):c.726delinsAA (p.Leu243fs) rs886039671
NM_014444.5(TUBGCP4):c.778C>T (p.Arg260Ter) rs755174583
NM_014444.5(TUBGCP4):c.801C>A (p.Tyr267Ter)
NM_014444.5(TUBGCP4):c.888del (p.Gly297fs)
NM_014444.5(TUBGCP4):c.979C>T (p.Gln327Ter) rs757367635

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