List of variants in gene TBC1D24 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)	rs398122967	0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)	rs201257588	0.00005
NM_001199107.2(TBC1D24):c.557del (p.Leu186fs)	rs1131691737	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)	rs564477999	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.1206+2T>C	rs2065771781	0.00001
NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter)	rs770107050	0.00001
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)	rs773916549
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)	rs1057524191
NM_001199107.2(TBC1D24):c.1526-2A>C	rs1131691552
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])	rs761918906
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)	rs763626059
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	rs397514713
NM_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs)	rs796053407
NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter)	rs1567412736

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