List of variants reported as pathogenic for Nemaline myopathy 9 by Invitae

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter)	rs779140230	0.00001
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)	rs1288106608
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs)	rs2105309832
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs)	rs749464576
NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)
NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter)	rs2105312506
NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer)	rs1247404453
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter)	rs2105312600
NM_006063.3(KLHL41):c.215del (p.Lys72fs)	rs775513051
NM_006063.3(KLHL41):c.215dup (p.Glu73fs)	rs775513051
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)	rs1574349645

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