List of variants studied for nemaline myopathy 8 by Baylor Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser)	rs138791086	0.00081
NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met)	rs139268932	0.00016
NM_152393.4(KLHL40):c.1153-3C>A	rs767265252
NM_152393.4(KLHL40):c.1340C>A (p.Pro447Gln)	rs764077398
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter)	rs1697319878
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)	rs768335581

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