ClinVar Miner

List of variants in gene ABCD1 reported as benign for brain disorder

Included ClinVar conditions (1834):
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_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000033.3(ABCD1):c.*1035C>T rs6643782 0.69879
NM_000033.4(ABCD1):c.1992-32C>T rs4898368 0.59030
NM_000033.4(ABCD1):c.*877C>T rs11803 0.46252
NM_000033.4(ABCD1):c.*894G>A rs1055847 0.44006
NM_000033.4(ABCD1):c.*608G>A rs73640819 0.19859
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000033.4(ABCD1):c.1393+31C>T rs73633774 0.01908
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684 0.00506
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000033.4(ABCD1):c.1393+18C>G rs188551185 0.00164
NM_000033.4(ABCD1):c.1634+12C>T rs369538219 0.00150
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000033.4(ABCD1):c.-202C>G rs781978041 0.00067
NM_000033.4(ABCD1):c.*985C>G rs782309410 0.00063
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740 0.00046
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852 0.00034
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465 0.00028
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) rs368606000 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570 0.00013
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00012
NM_000033.4(ABCD1):c.*473C>T rs782343473 0.00011
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078 0.00010
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 0.00010
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.1865+16C>T rs782719238 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684 0.00007
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177 0.00007
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser) rs965462099 0.00005
NM_000033.4(ABCD1):c.600C>T (p.Asp200=) rs782724538 0.00004
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=) rs782548310 0.00003
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg) rs782242003 0.00003
NM_000033.4(ABCD1):c.1489-13G>T rs782622708 0.00003
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024 0.00003
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly) rs781871257 0.00003
NM_000033.4(ABCD1):c.768C>T (p.Asn256=) rs782236148 0.00003
NM_000033.4(ABCD1):c.90C>T (p.His30=) rs782195097 0.00003
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00002
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=) rs727503786 0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) rs782647014 0.00002
NM_000033.4(ABCD1):c.901-4G>A rs782306934 0.00002
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=) rs782515233 0.00001
NM_000033.4(ABCD1):c.1391G>A (p.Arg464Gln) rs138902450 0.00001
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=) rs782704819 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.225C>T (p.Leu75=) rs781883009 0.00001
NM_000033.4(ABCD1):c.729C>G (p.Pro243=) rs1557052503 0.00001
NM_000033.4(ABCD1):c.1014G>A (p.Val338=)
NM_000033.4(ABCD1):c.1077G>A (p.Glu359=)
NM_000033.4(ABCD1):c.1082-19C>G rs374337788
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1098G>A (p.Lys366=)
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)
NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)
NM_000033.4(ABCD1):c.1299C>T (p.His433=)
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His) rs782159028
NM_000033.4(ABCD1):c.1394-18G>A
NM_000033.4(ABCD1):c.1394-19C>T
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1634+13G>A
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1781-7del
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.243G>C (p.Leu81=)
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)
NM_000033.4(ABCD1):c.402G>A (p.Leu134=)
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)
NM_000033.4(ABCD1):c.475G>A (p.Ala159Thr)
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
NM_000033.4(ABCD1):c.772C>T (p.Leu258=)
NM_000033.4(ABCD1):c.900+6dup
NM_000033.4(ABCD1):c.901-5del rs782805046
NM_000033.4(ABCD1):c.901-5dup

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