List of variants in gene MICU1 reported as likely pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001195518.2(MICU1):c.735+1G>A	rs369915689	0.00002
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	rs777327250	0.00001
NM_001195518.2(MICU1):c.156G>A (p.Trp52Ter)
NM_001195518.2(MICU1):c.40del (p.Ala14fs)	rs749124658
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)	rs1840027040
NM_001195518.2(MICU1):c.553C>T (p.Arg185Ter)
NM_001195518.2(MICU1):c.765dup (p.Met256fs)

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