ClinVar Miner

List of variants in gene LOXHD1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_001384474.1(LOXHD1):c.5237T>C (p.Leu1746Pro) rs372241056 0.00041
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187 0.00039
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.2135A>G (p.Lys712Arg) rs1010867059 0.00008
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00006
NM_001384474.1(LOXHD1):c.3025G>A (p.Val1009Met) rs756508090 0.00006
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn) rs1167683873 0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val) rs1131691786 0.00002
NM_001384474.1(LOXHD1):c.1736G>C (p.Gly579Ala) rs903294457 0.00002
NM_001384474.1(LOXHD1):c.245+5G>A rs374277176 0.00002
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu) rs950165733 0.00002
NM_001384474.1(LOXHD1):c.3920C>G (p.Pro1307Arg) rs757545325 0.00001
NM_001384474.1(LOXHD1):c.4691T>C (p.Leu1564Pro) rs1358259929 0.00001
NM_001384474.1(LOXHD1):c.4798G>A (p.Ala1600Thr) rs1412765114 0.00001
NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg) rs1279719056 0.00001
NM_001384474.1(LOXHD1):c.1148G>A (p.Cys383Tyr)
NM_001384474.1(LOXHD1):c.1388C>A (p.Pro463His)
NM_001384474.1(LOXHD1):c.1879A>C (p.Lys627Gln) rs1131691796
NM_001384474.1(LOXHD1):c.1951G>A (p.Val651Met) rs769377709
NM_001384474.1(LOXHD1):c.2636G>C (p.Arg879Pro)
NM_001384474.1(LOXHD1):c.2665C>G (p.Pro889Ala)
NM_001384474.1(LOXHD1):c.2938G>T (p.Gly980Trp)
NM_001384474.1(LOXHD1):c.3658A>C (p.Lys1220Gln) rs2144371667
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met) rs546426989
NM_001384474.1(LOXHD1):c.4096-7del rs1314985669
NM_001384474.1(LOXHD1):c.6342G>C (p.Val2114=)
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala) rs2032151816
NM_001384474.1(LOXHD1):c.82T>C (p.Ser28Pro)

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.