ClinVar Miner

List of variants studied for proximal myopathy with extrapyramidal signs by MGZ Medical Genetics Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter) rs1840027040
NM_001195518.2(MICU1):c.538-20G>A

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