List of variants in gene combination CPT2, LOC129930561 reported as uncertain significance 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000098.3(CPT2):c.62C>A (p.Pro21His)	rs1399429530	0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn)	rs1057287341	0.00004
NM_000098.3(CPT2):c.99G>C (p.Gln33His)	rs1196469539	0.00004
NM_000098.3(CPT2):c.53C>T (p.Pro18Leu)	rs1176581459	0.00002
NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)	rs760976212	0.00001
NM_000098.3(CPT2):c.130C>T (p.His44Tyr)	rs995114769	0.00001
NM_000098.3(CPT2):c.37_39del (p.Gly13del)	rs1553168847

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