List of variants in gene TBC1D20 reported as pathogenic for Warburg micro syndrome 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.672G>A (p.Trp224Ter)	rs587777160

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