ClinVar Miner

List of variants studied for Nemaline myopathy 9 by Revvity Omics, Revvity

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)
NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)

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