ClinVar Miner

List of variants in gene CPT2 reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 52
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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.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000098.2(CPT2):c.-477C>T rs7545725 0.00978
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.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000098.3(CPT2):c.*55C>T rs61561746 0.00201
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.*361T>C rs558161718 0.00034
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr) rs150888506 0.00027
NM_000098.3(CPT2):c.1048C>T (p.Arg350Cys) rs151003641 0.00025
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.*223A>C rs758780739 0.00017
NM_000098.2(CPT2):c.-282C>T rs886046402 0.00009
NM_000098.3(CPT2):c.*439T>C rs886046410 0.00008
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile) rs146670074 0.00007
NM_000098.2(CPT2):c.-285C>A rs577034240 0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000098.3(CPT2):c.1645+15G>T rs753344588 0.00004
NM_000098.2(CPT2):c.-216A>G rs886046404 0.00003
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu) rs368311455 0.00003
NM_000098.3(CPT2):c.1559C>T (p.Pro520Leu) rs776754218 0.00003
NM_000098.3(CPT2):c.852C>T (p.Pro284=) rs138575554 0.00003
NM_000098.3(CPT2):c.339G>A (p.Ser113=) rs778017005 0.00002
NM_000098.2(CPT2):c.-229G>T rs886046403 0.00001
NM_000098.2(CPT2):c.-461T>C rs17848481 0.00001
NM_000098.3(CPT2):c.*81C>T rs1035232426 0.00001
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295 0.00001
NM_000098.3(CPT2):c.1158A>C (p.Glu386Asp) rs758408111 0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000098.3(CPT2):c.1508G>A (p.Arg503His) rs750079911 0.00001
NM_000098.3(CPT2):c.1897G>T (p.Ala633Ser) rs141903761 0.00001
NM_000098.2(CPT2):c.-242G>A rs548768045
NM_000098.2(CPT2):c.-242G>C rs548768045
NM_000098.3(CPT2):c.*142T>C rs1256527025
NM_000098.3(CPT2):c.1064C>G (p.Ser355Cys) rs1645419768
NM_000098.3(CPT2):c.1721A>C (p.Tyr574Ser) rs1645442128
NM_000098.3(CPT2):c.1936G>A (p.Asp646Asn) rs369202713
NM_000098.3(CPT2):c.388A>C (p.Asn130His) rs886046408
NM_000098.3(CPT2):c.411C>G (p.Phe137Leu) rs1645411725
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.683A>G (p.Lys228Arg) rs886046409

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