ClinVar Miner

List of variants studied for Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities by Undiagnosed Diseases Network, NIH

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Minimum conflict level: Report conflict between different conditions
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_016011.5(MECR):c.830+2dup	rs756421370	0.00006
NM_016011.4(MECR):c.-39G>C	rs749435497

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