ClinVar Miner

List of variants in gene CPT2, LOC129930561 studied for Carnitine palmitoyltransferase II deficiency

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.149C>A (p.Pro50His) rs28936375 0.00022
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00005
NM_000098.3(CPT2):c.35G>A (p.Arg12Gln) rs1044059386 0.00004
NM_000098.3(CPT2):c.62C>A (p.Pro21His) rs1399429530 0.00004
NM_000098.3(CPT2):c.65G>A (p.Ser22Asn) rs1057287341 0.00004
NM_000098.3(CPT2):c.72C>T (p.Pro24=) rs926538202 0.00004
NM_000098.3(CPT2):c.99G>C (p.Gln33His) rs1196469539 0.00004
NM_000098.3(CPT2):c.-117G>T rs886046405 0.00003
NM_000098.3(CPT2):c.103C>T (p.Leu35=) rs2929073 0.00003
NM_000098.3(CPT2):c.67C>G (p.Arg23Gly) rs1329055231 0.00003
NM_000098.3(CPT2):c.53C>T (p.Pro18Leu) rs1176581459 0.00002
NM_000098.3(CPT2):c.108G>A (p.Gln36=) rs773734918 0.00001
NM_000098.3(CPT2):c.122C>T (p.Pro41Leu) rs760976212 0.00001
NM_000098.3(CPT2):c.130C>T (p.His44Tyr) rs995114769 0.00001
NM_000098.3(CPT2):c.135C>T (p.Tyr45=) rs1645327989 0.00001
NM_000098.3(CPT2):c.143G>C (p.Ser48Thr) rs1250983045 0.00001
NM_000098.3(CPT2):c.152+3G>A rs886046407 0.00001
NM_000098.3(CPT2):c.152+5G>A rs1397098803 0.00001
NM_000098.3(CPT2):c.152+7C>T rs1442160283 0.00001
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter) rs1374482155 0.00001
NM_000098.3(CPT2):c.33C>T (p.Pro11=) rs1173716908 0.00001
NM_000098.3(CPT2):c.36G>C (p.Arg12=) rs1350688021 0.00001
NM_000098.3(CPT2):c.39C>A (p.Gly13=) rs1279681106 0.00001
NM_000098.3(CPT2):c.42C>T (p.Pro14=) rs570576290 0.00001
NM_000098.3(CPT2):c.46G>T (p.Val16Phe) rs1469396631 0.00001
NM_000098.3(CPT2):c.69G>T (p.Arg23=) rs1353591461 0.00001
NM_000098.3(CPT2):c.75del (p.Ser26fs) rs1057517493 0.00001
NM_000098.3(CPT2):c.7C>T (p.Pro3Ser) rs1645324758 0.00001
NM_000098.3(CPT2):c.85T>G (p.Ser29Ala) rs1342928062 0.00001
NM_000098.3(CPT2):c.91C>T (p.Pro31Ser) rs1216427183 0.00001
NM_000098.3(CPT2):c.93C>T (p.Pro31=) rs1056264696 0.00001
NM_000098.3(CPT2):c.-101C>A rs886046406
NM_000098.3(CPT2):c.102C>T (p.Tyr34=) rs1317793581
NM_000098.3(CPT2):c.109C>T (p.Arg37Cys) rs1645327746
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs) rs754363068
NM_000098.3(CPT2):c.111C>G (p.Arg37=) rs1557712092
NM_000098.3(CPT2):c.122C>A (p.Pro41His) rs760976212
NM_000098.3(CPT2):c.123C>A (p.Pro41=) rs898278662
NM_000098.3(CPT2):c.126C>T (p.Thr42=)
NM_000098.3(CPT2):c.131A>G (p.His44Arg)
NM_000098.3(CPT2):c.131_133delinsCCC (p.His44_Tyr45delinsProHis)
NM_000098.3(CPT2):c.133T>C (p.Tyr45His) rs1321783611
NM_000098.3(CPT2):c.135C>G (p.Tyr45Ter) rs1645327989
NM_000098.3(CPT2):c.143G>A (p.Ser48Asn) rs1250983045
NM_000098.3(CPT2):c.144C>A (p.Ser48Arg) rs2100255084
NM_000098.3(CPT2):c.144C>G (p.Ser48Arg)
NM_000098.3(CPT2):c.144C>T (p.Ser48=)
NM_000098.3(CPT2):c.147G>A (p.Leu49=) rs1645328186
NM_000098.3(CPT2):c.148C>T (p.Pro50Ser)
NM_000098.3(CPT2):c.152+12C>T
NM_000098.3(CPT2):c.152+13T>C rs2100255165
NM_000098.3(CPT2):c.152+15C>T
NM_000098.3(CPT2):c.152+1G>T rs2100255111
NM_000098.3(CPT2):c.152G>T (p.Arg51Met)
NM_000098.3(CPT2):c.15G>A (p.Leu5=)
NM_000098.3(CPT2):c.15G>C (p.Leu5=) rs1443908294
NM_000098.3(CPT2):c.20dup (p.Arg8fs)
NM_000098.3(CPT2):c.21G>T (p.Leu7=)
NM_000098.3(CPT2):c.26C>T (p.Ala9Val) rs1645324918
NM_000098.3(CPT2):c.29G>C (p.Trp10Ser)
NM_000098.3(CPT2):c.30G>T (p.Trp10Cys)
NM_000098.3(CPT2):c.33C>G (p.Pro11=) rs1173716908
NM_000098.3(CPT2):c.34C>T (p.Arg12Trp) rs1270720547
NM_000098.3(CPT2):c.37_39del (p.Gly13del) rs1553168847
NM_000098.3(CPT2):c.38del (p.Gly13fs) rs786204647
NM_000098.3(CPT2):c.39_46dup (p.Val16fs) rs2100254713
NM_000098.3(CPT2):c.40C>T (p.Pro14Ser) rs2100254731
NM_000098.3(CPT2):c.42C>G (p.Pro14=) rs570576290
NM_000098.3(CPT2):c.43_62dup (p.Ser22fs)
NM_000098.3(CPT2):c.45G>C (p.Ala15=) rs761850684
NM_000098.3(CPT2):c.54G>A (p.Pro18=)
NM_000098.3(CPT2):c.54G>C (p.Pro18=)
NM_000098.3(CPT2):c.56G>A (p.Gly19Glu) rs938409577
NM_000098.3(CPT2):c.57A>G (p.Gly19=)
NM_000098.3(CPT2):c.59C>T (p.Ala20Val)
NM_000098.3(CPT2):c.60C>T (p.Ala20=) rs2100254803
NM_000098.3(CPT2):c.65G>T (p.Ser22Ile)
NM_000098.3(CPT2):c.66T>C (p.Ser22=) rs2100254831
NM_000098.3(CPT2):c.69G>A (p.Arg23=)
NM_000098.3(CPT2):c.6G>T (p.Val2=)
NM_000098.3(CPT2):c.74T>C (p.Leu25Pro) rs2100254861
NM_000098.3(CPT2):c.75C>G (p.Leu25=)
NM_000098.3(CPT2):c.82G>C (p.Gly28Arg)
NM_000098.3(CPT2):c.84C>A (p.Gly28=) rs772541454
NM_000098.3(CPT2):c.86C>G (p.Ser29Cys)
NM_000098.3(CPT2):c.87C>T (p.Ser29=)
NM_000098.3(CPT2):c.88G>A (p.Gly30Arg) rs937940197
NM_000098.3(CPT2):c.88G>C (p.Gly30Arg)
NM_000098.3(CPT2):c.88G>T (p.Gly30Trp) rs937940197
NM_000098.3(CPT2):c.89G>A (p.Gly30Glu) rs1572378353
NM_000098.3(CPT2):c.90G>C (p.Gly30=) rs2100254924
NM_000098.3(CPT2):c.90G>T (p.Gly30=)
NM_000098.3(CPT2):c.93C>G (p.Pro31=)
NM_000098.3(CPT2):c.9C>T (p.Pro3=)

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