ClinVar Miner

List of variants reported as pathogenic for Deafness dystonia syndrome

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.100564340_100627836del
NC_000023.10:g.100580141_100619992del
NC_000023.10:g.100582860_100610076del
NC_000023.11:g.(?_101345661)_(101348742_?)del
NC_000023.11:g.(?_101346475)_(101348757_?)del
NC_000023.11:g.101345283_101347393del
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.181del (p.Ala61fs) rs2147416123
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004085.4(TIMM8A):c.223C>T (p.Gln75Ter)
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter) rs1054894
NM_004085.4(TIMM8A):c.66_67del (p.Ile23fs) rs2147418146
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter) rs111033631
NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer) rs869320665

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