List of variants in gene KLHL40 reported as pathogenic for congenital myopathy

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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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.602G>A (p.Trp201Ter)	rs397509420	0.00003
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)	rs778022582	0.00002
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.1281_1294del (p.Cys428fs)	rs770267750
NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter)	rs139588377
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys)	rs367579275
NM_152393.4(KLHL40):c.1450dup (p.Asp484fs)
NM_152393.4(KLHL40):c.1608-1G>A	rs2125846068
NM_152393.4(KLHL40):c.1608-1G>C
NM_152393.4(KLHL40):c.1612G>C (p.Ala538Pro)	rs397509421
NM_152393.4(KLHL40):c.173del (p.Phe58fs)	rs1697260724
NM_152393.4(KLHL40):c.205_214del (p.Ala69fs)	rs2125844554
NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter)	rs375331819
NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter)	rs2125844563
NM_152393.4(KLHL40):c.270C>G (p.Tyr90Ter)
NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)
NM_152393.4(KLHL40):c.544_545del (p.Ser182fs)	rs1384412486
NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter)	rs1292866391
NM_152393.4(KLHL40):c.602G>T (p.Trp201Leu)	rs397509420
NM_152393.4(KLHL40):c.631del (p.Ala211fs)	rs752734208
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter)	rs768335581
NM_152393.4(KLHL40):c.818dup (p.Lys275fs)	rs1575218831
NM_152393.4(KLHL40):c.928del (p.Leu310fs)	rs1055019439
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	rs763283033

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