ClinVar Miner

List of variants in gene APRT studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000485.3(APRT):c.162C>T (p.His54=) rs145490332 0.00298
NM_000485.3(APRT):c.*152C>T rs137965502 0.00095
NM_000485.3(APRT):c.*83G>A rs748634790 0.00066
NM_000485.3(APRT):c.376G>A (p.Val126Met) rs75205792 0.00022
NM_000485.3(APRT):c.346G>A (p.Ala116Thr) rs201944035 0.00021
NM_000485.3(APRT):c.411C>T (p.Asn137=) rs142472789 0.00019
NM_000485.3(APRT):c.276G>A (p.Leu92=) rs372253865 0.00015
NM_000485.3(APRT):c.334A>T (p.Ile112Phe) rs767177754 0.00009
NM_000485.3(APRT):c.160C>G (p.His54Asp) rs752977102 0.00007
NM_000485.3(APRT):c.216C>A (p.Gly72=) rs377050219 0.00006
NM_000485.3(APRT):c.364A>C (p.Arg122=) rs35095508 0.00006
NM_000485.3(APRT):c.400+2dup rs745594160 0.00005
NM_000485.3(APRT):c.482C>T (p.Ser161Leu) rs766909450 0.00005
NM_000485.3(APRT):c.175G>A (p.Asp59Asn) rs768268700 0.00004
NM_000485.3(APRT):c.352G>C (p.Glu118Gln) rs370665100 0.00004
NM_000485.3(APRT):c.459C>T (p.Cys153=) rs375131814 0.00004
NM_000485.3(APRT):c.*122C>T rs769271336 0.00003
NM_000485.3(APRT):c.*210A>G rs1184700495 0.00003
NM_000485.3(APRT):c.194A>T (p.Asp65Val) rs104894506 0.00003
NM_000485.3(APRT):c.250G>A (p.Val84Met) rs200392753 0.00003
NM_000485.3(APRT):c.460G>A (p.Val154Met) rs141669365 0.00003
NM_000485.3(APRT):c.316G>A (p.Gly106Arg) rs780098835 0.00002
NM_000485.3(APRT):c.448G>T (p.Val150Phe) rs281860266 0.00002
NM_000485.3(APRT):c.81-3C>G rs761838152 0.00002
NM_000485.3(APRT):c.199C>T (p.Arg67Ter) rs369681854 0.00001
NM_000485.3(APRT):c.259C>T (p.Arg87Ter) rs3169258 0.00001
NM_000485.3(APRT):c.294G>A (p.Trp98Ter) rs104894507 0.00001
NM_000485.3(APRT):c.329T>C (p.Leu110Pro) rs104894508 0.00001
NM_000485.3(APRT):c.359G>T (p.Gly120Val) rs776948275 0.00001
NM_000485.3(APRT):c.385C>T (p.Leu129=) rs376129456 0.00001
NM_000485.3(APRT):c.491G>A (p.Gly164Asp) rs768425517 0.00001
NM_000485.3(APRT):c.522_524del (p.Ser175del) rs1909034163 0.00001
NM_000485.3(APRT):c.542G>C (p.Ter181Ser) rs387906584 0.00001
NM_000485.2:c.-1_*1del
NM_000485.3(APRT):c.*178A>C rs4695
NM_000485.3(APRT):c.110C>T (p.Ala37Val)
NM_000485.3(APRT):c.116_137del (p.Phe39fs)
NM_000485.3(APRT):c.119G>C (p.Arg40Pro) rs1909144433
NM_000485.3(APRT):c.180_181insT (p.Ile61fs) rs1909139691
NM_000485.3(APRT):c.181A>G (p.Ile61Val)
NM_000485.3(APRT):c.184_187+22del rs1909137923
NM_000485.3(APRT):c.187+2C>A
NM_000485.3(APRT):c.188-10dup
NM_000485.3(APRT):c.188-145_296del rs1909079256
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA
NM_000485.3(APRT):c.188-3C>G rs766646831
NM_000485.3(APRT):c.188G>A (p.Gly63Asp) rs1909091672
NM_000485.3(APRT):c.193G>T (p.Asp65Tyr)
NM_000485.3(APRT):c.200G>A (p.Arg67Gln) rs762509151
NM_000485.3(APRT):c.227C>T (p.Ala76Val) rs1909088511
NM_000485.3(APRT):c.235C>A (p.Leu79Ile)
NM_000485.3(APRT):c.241C>G (p.Leu81Val)
NM_000485.3(APRT):c.258_261dup (p.Lys88fs) rs281860265
NM_000485.3(APRT):c.264G>T (p.Lys88Asn) rs138781159
NM_000485.3(APRT):c.265C>T (p.Arg89Trp)
NM_000485.3(APRT):c.266G>A (p.Arg89Gln) rs150156607
NM_000485.3(APRT):c.280_286del (p.Gly94fs) rs776240467
NM_000485.3(APRT):c.286_287del (p.Thr96fs) rs1449730265
NM_000485.3(APRT):c.289_290del (p.Leu97fs) rs1437920638
NM_000485.3(APRT):c.293G>A (p.Trp98Ter)
NM_000485.3(APRT):c.311A>G (p.Glu104Gly) rs1909078308
NM_000485.3(APRT):c.321+2dup rs281860263
NM_000485.3(APRT):c.321G>A (p.Lys107=)
NM_000485.3(APRT):c.350T>C (p.Leu117Pro)
NM_000485.3(APRT):c.356C>T (p.Pro119Leu)
NM_000485.3(APRT):c.365G>A (p.Arg122Lys)
NM_000485.3(APRT):c.366G>C (p.Arg122Ser)
NM_000485.3(APRT):c.371T>G (p.Val124Gly) rs1909057938
NM_000485.3(APRT):c.380A>G (p.Asp127Gly) rs1909057323
NM_000485.3(APRT):c.386T>G (p.Leu129Arg)
NM_000485.3(APRT):c.389T>C (p.Leu130Pro) rs1909056519
NM_000485.3(APRT):c.392C>A (p.Ala131Asp)
NM_000485.3(APRT):c.398G>A (p.Gly133Asp) rs1909055807
NM_000485.3(APRT):c.400+14C>T rs373048958
NM_000485.3(APRT):c.400+1G>T rs1317695590
NM_000485.3(APRT):c.400+3A>T rs1909055310
NM_000485.3(APRT):c.401-15C>T rs1449537193
NM_000485.3(APRT):c.407T>C (p.Met136Thr) rs28999113
NM_000485.3(APRT):c.412G>A (p.Ala138Thr)
NM_000485.3(APRT):c.428T>C (p.Leu143Pro) rs1909040577
NM_000485.3(APRT):c.433C>A (p.Arg145Ser) rs550667813
NM_000485.3(APRT):c.434G>A (p.Arg145His)
NM_000485.3(APRT):c.439C>T (p.Gln147Ter) rs745872435
NM_000485.3(APRT):c.457T>C (p.Cys153Arg) rs764321075
NM_000485.3(APRT):c.461_462del (p.Val154fs) rs1909038050
NM_000485.3(APRT):c.470T>C (p.Val157Ala)
NM_000485.3(APRT):c.472_474del (p.Glu158del) rs1909037144
NM_000485.3(APRT):c.482C>A (p.Ser161Ter)
NM_000485.3(APRT):c.494G>C (p.Arg165Thr)
NM_000485.3(APRT):c.510del (p.Val171fs) rs1909035155
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del) rs121912681
NM_000485.3(APRT):c.519C>G (p.Phe173Leu)
NM_000485.3(APRT):c.524C>T (p.Ser175Phe) rs1186881962
NM_000485.3(APRT):c.526C>T (p.Leu176Phe) rs1909033869
NM_000485.3(APRT):c.526_530del (p.Leu176fs) rs755380873
NM_000485.3(APRT):c.532C>T (p.Gln178Ter) rs1165408563
NM_000485.3(APRT):c.534G>C (p.Gln178His)
NM_000485.3(APRT):c.541T>C (p.Ter181Arg) rs758634272
NM_000485.3(APRT):c.543A>T (p.Ter181Cys) rs1909032484
NM_000485.3(APRT):c.81-2A>G rs751779314
NM_000485.3(APRT):c.82G>C (p.Asp28His) rs1909147057
NM_000485.3(APRT):c.84C>A (p.Asp28Glu) rs1344826245
NM_000485.3(APRT):c.85A>T (p.Ile29Phe)
NM_000485.3(APRT):c.91C>G (p.Pro31Ala)
NM_000485.3(APRT):c.94G>A (p.Val32Ile)
NM_000485.3(APRT):c.98T>C (p.Leu33Pro) rs1909145695

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