List of variants in gene TBC1D24 reported as pathogenic for DOORS syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	rs398122967	0.00005
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
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.118C>T (p.Arg40Cys)	rs398122966	0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)	rs760474458	0.00001
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	rs773916549
NM_001199107.2(TBC1D24):c.1206+5G>A	rs398122968
NM_001199107.2(TBC1D24):c.1460dup (p.His487fs)	rs797044549
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	rs761918906
NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg)	rs797044547
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)	rs747821285
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu)	rs201257588
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)	rs2141872119
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe)	rs797044548

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