ClinVar Miner

List of variants in gene TBC1D24 reported as likely pathogenic for not provided

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.1101del (p.Leu368fs)
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1187T>A (p.Ile396Asn) rs2141875717
NM_001199107.2(TBC1D24):c.1322_1323del (p.Arg441fs) rs1596972653
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter) rs878854271
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.574C>T (p.Gln192Ter) rs2141871997
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104

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