ClinVar Miner

List of variants in gene ABCD4 reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
NM_005050.4(ABCD4):c.1028+5G>A
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
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.1426T>C (p.Tyr476His)
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585
NM_005050.4(ABCD4):c.1559+7_1559+11del
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
NM_005050.4(ABCD4):c.1752+2T>C rs151116417
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056

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