List of variants reported as likely pathogenic for Nemaline myopathy 8

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)	rs367579275	0.00006
NM_152393.4(KLHL40):c.100G>C (p.Asp34His)	rs778565563	0.00001
NM_152393.4(KLHL40):c.1421+1G>T	rs1186218257	0.00001
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys)	rs758188096	0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys)	rs397509419	0.00001
NM_152393.4(KLHL40):c.1152+1G>A
NM_152393.4(KLHL40):c.1152+2T>A	rs1575219191
NM_152393.4(KLHL40):c.1153-2A>T	rs752493018
NM_152393.4(KLHL40):c.1305C>A (p.Tyr435Ter)
NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter)	rs1486566170
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)	rs367579275
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter)	rs1697319878
NM_152393.4(KLHL40):c.1607+1G>T	rs2125845625
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro)	rs778303947
NM_152393.4(KLHL40):c.25G>T (p.Glu9Ter)	rs1575218072
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)	rs768335581
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	rs763283033

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