ClinVar Miner

List of variants in gene TIMM8A reported as pathogenic for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) rs80356559
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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