ClinVar Miner

List of variants reported as benign for carnitine palmitoyltransferase II deficiency by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile) rs1799821 0.46024
NM_000098.3(CPT2):c.1939A>G (p.Met647Val) rs1799822 0.15237
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292 0.02118
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642 0.00010
NM_000098.3(CPT2):c.1404G>A (p.Gln468=) rs140771069 0.00002
NM_000098.3(CPT2):c.1851T>C (p.His617=) rs540322467 0.00001
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.341-10dup

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