ClinVar Miner

List of variants in gene CPT2 studied for not specified

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Total variants: 41
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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_000098.3(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.932A>G (p.Asn311Ser) rs142790440 0.00143
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
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.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) rs201508063 0.00020
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) rs192275019 0.00014
NM_000098.3(CPT2):c.1518C>T (p.Ser506=) rs140798841 0.00011
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642 0.00010
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) rs373714948 0.00003
NM_000098.3(CPT2):c.870C>T (p.Tyr290=) rs202145705 0.00003
NM_000098.3(CPT2):c.1263T>C (p.Asp421=) rs749714778 0.00002
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1751A>G (p.His584Arg) rs750604350 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000098.3(CPT2):c.757A>G (p.Ile253Val) rs914465235 0.00001
NM_000098.3(CPT2):c.876C>T (p.Thr292=) rs1179793805 0.00001
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.340+18T>A rs1553169114
NM_000098.3(CPT2):c.340+20G>A rs369737473
NM_000098.3(CPT2):c.341-16dup rs749177082
NM_000098.3(CPT2):c.495A>T (p.Thr165=) rs1057523519
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly) rs199673903

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