List of variants in gene TBC1D20 studied for Warburg micro syndrome 4

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_144628.4(TBC1D20):c.71-49T>G	rs6139203	0.48145
NM_144628.4(TBC1D20):c.71-210G>A	rs6037661	0.48070
NM_144628.4(TBC1D20):c.337+88G>T	rs2273465	0.43662
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp)	rs761833391	0.00001
NM_144628.4(TBC1D20):c.(70+1_71-1)_(*3107+1_?)del
NM_144628.4(TBC1D20):c.199C>T (p.Arg67Ter)	rs587777157
NM_144628.4(TBC1D20):c.292C>T (p.Gln98Ter)	rs587777158
NM_144628.4(TBC1D20):c.352_353del (p.Gln118fs)	rs587777159
NM_144628.4(TBC1D20):c.407G>A (p.Arg136His)
NM_144628.4(TBC1D20):c.672G>A (p.Trp224Ter)	rs587777160
NM_144628.4(TBC1D20):c.874A>G (p.Ile292Val)	rs374330245

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