ClinVar Miner

List of variants in gene ABCD1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.-20C>T rs782004770
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1393+31C>T rs73633774
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.144G>A (p.Ala48=) rs1557052209
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) rs1557054740
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1658T>C (p.Leu553Pro) rs1557054849
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
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.1865+11C>T rs781956636
NM_000033.4(ABCD1):c.1866-11C>A rs782126372
NM_000033.4(ABCD1):c.1992-32C>T rs4898368
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2170G>A (p.Val724Met) rs782212963
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) rs868992338
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.838C>G (p.Arg280Gly) rs193922098
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.901-16C>T rs41302176

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.