List of variants reported as likely benign for Carnitine palmitoyl transferase 1A deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)	rs61731903	0.00262
NM_001876.4(CPT1A):c.2142+8C>T	rs147563740	0.00054
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)	rs188173541	0.00053
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)	rs61731902	0.00039
NM_001876.4(CPT1A):c.492G>A (p.Leu164=)	rs200836324	0.00034
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=)	rs755323437	0.00033
NM_001876.4(CPT1A):c.171A>G (p.Ala57=)	rs758539295	0.00024
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=)	rs199640034	0.00010
NM_001876.4(CPT1A):c.390C>T (p.Leu130=)	rs188016546	0.00010
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)	rs144747588	0.00006
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)	rs200501379	0.00006
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)	rs764443409	0.00002
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=)	rs140332936	0.00002
NM_001876.4(CPT1A):c.303G>A (p.Thr101=)	rs553777167	0.00002
NM_001876.4(CPT1A):c.1459-6dup	rs767372374
NM_001876.4(CPT1A):c.309C>T (p.Asn103=)	rs200536266

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