ClinVar Miner

List of variants in gene ABCD4 studied for classic organic aciduria

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
ABCD4, 1456G-T
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023
NM_005050.4(ABCD4):c.1028+5G>A
NM_005050.4(ABCD4):c.1028+6G>T rs115783644
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801
NM_005050.4(ABCD4):c.1118+9C>T rs370581068
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
NM_005050.4(ABCD4):c.1327+8C>T rs199678602
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157
NM_005050.4(ABCD4):c.1559+7_1559+11del
NM_005050.4(ABCD4):c.1560-12A>C rs74061802
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734
NM_005050.4(ABCD4):c.158-7C>A rs557930358
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
NM_005050.4(ABCD4):c.1636+10C>T rs74061801
NM_005050.4(ABCD4):c.1637-10G>A rs201148020
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.1752+2T>C rs151116417
NM_005050.4(ABCD4):c.1752+5C>T rs370270229
NM_005050.4(ABCD4):c.1752+7G>A rs376322555
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856
NM_005050.4(ABCD4):c.360C>T (p.His120=)
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
NM_005050.4(ABCD4):c.425+7G>A rs375608814
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
NM_005050.4(ABCD4):c.668+7C>T rs61757464
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
NM_005050.4(ABCD4):c.669-13T>G rs144451801
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
NM_005050.4(ABCD4):c.719+2T>G
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
NM_005050.4(ABCD4):c.815-13G>C rs74063815
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)

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