List of variants in gene CPT2 reported as likely pathogenic for Carnitine palmitoyl transferase II deficiency, myopathic form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00134
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	rs121918528	0.00006
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)	rs754386565	0.00002
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	rs74315295	0.00001
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)	rs778743524	0.00001
NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)	rs767004984	0.00001
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	rs201065226	0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His)	rs794727616	0.00001
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)	rs1057517515
NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter)	rs761438840
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)	rs1557718075
NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)	rs1057517492
NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)	rs1057517525
NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs)	rs1057517507
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)	rs1057517477
NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter)	rs1057517517
NM_000098.3(CPT2):c.1645+2T>G	rs1057517473
NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter)	rs755830520

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