List of variants reported as pathogenic for Deafness dystonia syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.(?_101345661)_(101348742_?)del
NM_004085.4(TIMM8A):c.116del (p.Met39fs)	rs869320664
NM_004085.4(TIMM8A):c.127del (p.Cys43fs)	rs869320667
NM_004085.4(TIMM8A):c.133-23A>C	rs869320666
NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs)	rs869320733
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	rs80356560
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter)	rs1054894
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter)	rs111033631
NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer)	rs869320665

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