ClinVar Miner

List of variants reported as likely benign for carnitine palmitoyltransferase II deficiency by Natera, Inc.

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000098.3(CPT2):c.1428G>A (p.Leu476=) rs149557870 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000098.3(CPT2):c.1251C>T (p.Phe417=) rs576822710 0.00010
NM_000098.3(CPT2):c.1005T>C (p.Leu335=) rs554776730 0.00001
NM_000098.3(CPT2):c.1557G>A (p.Glu519=) rs1293579592 0.00001
NM_000098.3(CPT2):c.813A>G (p.Ala271=) rs561154406 0.00001
NM_000098.3(CPT2):c.1234G>T (p.Val412Leu) rs575447822
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699

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