List of variants in gene TIMM8A reported as likely pathogenic for Deafness dystonia syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)	rs1602996815
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	rs80356560
NM_004085.4(TIMM8A):c.232_233insCAAT (p.Leu78fs)	rs2147416060

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