ClinVar Miner

List of variants in gene HAL studied for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002108.4(HAL):c.1315G>A (p.Val439Ile) rs7297245 0.85575
NM_002108.4(HAL):c.1353+13A>G rs6538694 0.82983
NM_002108.4(HAL):c.485-5T>C rs2302629 0.61949
NM_002108.4(HAL):c.*1241A>C rs1059844 0.44211
NM_002108.4(HAL):c.*110C>A rs2230885 0.21171
NM_002108.3(HAL):c.-378A>G rs7970524 0.20425
NM_002108.4(HAL):c.777A>G (p.Pro259=) rs36014288 0.14272
NM_002108.4(HAL):c.921T>C (p.Asn307=) rs11108364 0.09584
NM_002108.4(HAL):c.423A>T (p.Thr141=) rs2302628 0.07463
NM_002108.4(HAL):c.*1499A>G rs3812807 0.06609
NM_002108.4(HAL):c.*530T>G rs117562170 0.03547
NM_002108.4(HAL):c.-127C>A rs11108369 0.03510
NM_002108.4(HAL):c.*617G>A rs113875416 0.02879
NM_002108.4(HAL):c.-38C>T rs116011640 0.01294
NM_002108.4(HAL):c.*191C>T rs116122784 0.01115
NM_002108.4(HAL):c.*914T>C rs57838042 0.01081
NM_002108.4(HAL):c.492C>T (p.Tyr164=) rs17024973 0.01000
NM_002108.4(HAL):c.*555G>A rs137976982 0.00396
NM_002108.4(HAL):c.715+9A>G rs151109430 0.00314
NM_002108.4(HAL):c.*756C>T rs115037995 0.00280
NM_002108.4(HAL):c.1106G>A (p.Arg369Gln) rs117991621 0.00273
NM_002108.4(HAL):c.*1518C>T rs148189130 0.00260
NM_002108.4(HAL):c.1645G>A (p.Val549Met) rs61937878 0.00258
NM_002108.4(HAL):c.1764-4G>T rs189238113 0.00241
NM_002108.4(HAL):c.-68G>A rs565607247 0.00222
NM_002108.4(HAL):c.1584G>A (p.Thr528=) rs115620008 0.00202
NM_002108.4(HAL):c.-322T>C rs77869005 0.00170
NM_002108.4(HAL):c.*428C>G rs186840501 0.00150
NM_002108.4(HAL):c.855+9C>T rs35144639 0.00133
NM_002108.4(HAL):c.*789G>A rs549057913 0.00095
NM_002108.4(HAL):c.*547G>T rs144002506 0.00090
NM_002108.4(HAL):c.1472G>T (p.Gly491Val) rs141635447 0.00071
NM_002108.4(HAL):c.322C>T (p.Arg108Trp) rs143854097 0.00069
NM_002108.4(HAL):c.1609T>C (p.Trp537Arg) rs150591434 0.00066
NM_002108.4(HAL):c.1763+9A>C rs201942023 0.00046
NM_002108.4(HAL):c.*392C>T rs796922923 0.00043
NM_002108.4(HAL):c.*1169G>T rs745355227 0.00041
NM_002108.4(HAL):c.287C>T (p.Ser96Phe) rs142371886 0.00036
NM_002108.4(HAL):c.686C>T (p.Thr229Ile) rs143844261 0.00036
NM_002108.4(HAL):c.1724C>T (p.Pro575Leu) rs141674733 0.00035
NM_002108.4(HAL):c.33A>G (p.Glu11=) rs118129111 0.00034
NM_002108.4(HAL):c.841G>A (p.Ala281Thr) rs140891326 0.00033
NM_002108.4(HAL):c.345G>A (p.Glu115=) rs188783496 0.00031
NM_002108.4(HAL):c.*1409G>A rs141219113 0.00029
NM_002108.4(HAL):c.25C>T (p.Arg9Cys) rs201646460 0.00026
NM_002108.4(HAL):c.724C>A (p.Leu242Met) rs145831585 0.00024
NM_002108.4(HAL):c.*1119dup rs886049896 0.00021
NM_002108.4(HAL):c.493G>A (p.Gly165Ser) rs137949606 0.00018
NM_002108.4(HAL):c.1793C>T (p.Pro598Leu) rs143935341 0.00016
NM_002108.4(HAL):c.1794G>A (p.Pro598=) rs149461774 0.00015
NM_002108.4(HAL):c.1754C>G (p.Ser585Cys) rs201632329 0.00014
NM_002108.4(HAL):c.1169G>A (p.Arg390His) rs139643676 0.00013
NM_002108.4(HAL):c.1287+2T>C rs141634423 0.00013
NM_002108.4(HAL):c.309-2A>G rs140799551 0.00011
NM_002108.4(HAL):c.94G>T (p.Val32Leu) rs150051467 0.00011
NM_002108.4(HAL):c.1594G>A (p.Val532Ile) rs183059673 0.00009
NM_002108.4(HAL):c.1329C>G (p.Asn443Lys) rs150083495 0.00007
NM_002108.4(HAL):c.*976T>G rs762280245 0.00006
NM_002108.4(HAL):c.1076G>A (p.Arg359His) rs181887143 0.00006
NM_002108.4(HAL):c.1428T>G (p.Asn476Lys) rs759917804 0.00006
NM_002108.4(HAL):c.181C>T (p.Leu61=) rs139361462 0.00006
NM_002108.4(HAL):c.276C>T (p.Asp92=) rs151299220 0.00006
NM_002108.4(HAL):c.429G>A (p.Glu143=) rs138613169 0.00006
NM_002108.4(HAL):c.484+1G>A rs746735988 0.00006
NM_002108.4(HAL):c.*132C>T rs140039557 0.00005
NM_002108.4(HAL):c.751G>A (p.Val251Ile) rs769377973 0.00005
NM_002108.4(HAL):c.904-5G>A rs189938038 0.00005
NM_002108.4(HAL):c.-5G>A rs199707823 0.00004
NM_002108.4(HAL):c.623G>A (p.Arg208Gln) rs121434328 0.00004
NM_002108.4(HAL):c.86G>A (p.Arg29Gln) rs146640236 0.00004
NM_002108.4(HAL):c.398G>A (p.Arg133His) rs781172842 0.00003
NM_002108.4(HAL):c.*1300T>G rs1316771084 0.00002
NM_002108.4(HAL):c.-108C>T rs886049903 0.00002
NM_002108.4(HAL):c.776C>T (p.Pro259Leu) rs121434329 0.00002
NM_002108.4(HAL):c.77G>A (p.Trp26Ter) rs780094875 0.00002
NM_002108.4(HAL):c.*1548G>A rs886049892 0.00001
NM_002108.4(HAL):c.*509A>T rs886049899 0.00001
NM_002108.4(HAL):c.-120C>T rs537728013 0.00001
NM_002108.4(HAL):c.-139C>A rs1565996182 0.00001
NM_002108.4(HAL):c.-7C>T rs757218014 0.00001
NM_002108.4(HAL):c.1090G>A (p.Val364Ile) rs1949884460 0.00001
NM_002108.4(HAL):c.1416G>A (p.Glu472=) rs372729432 0.00001
NM_002108.4(HAL):c.1764-5T>C rs752249746 0.00001
NM_002108.4(HAL):c.1933C>T (p.His645Tyr) rs144698271 0.00001
NM_002108.4(HAL):c.368C>T (p.Thr123Met) rs139831415 0.00001
NM_002108.4(HAL):c.438G>A (p.Val146=) rs1230867509 0.00001
NM_002108.4(HAL):c.617G>C (p.Arg206Thr) rs121434327 0.00001
NM_002108.4(HAL):c.9A>G (p.Arg3=) rs766635201 0.00001
NM_002108.4(HAL):c.*1161C>T rs368835467
NM_002108.4(HAL):c.*1178A>G rs886049895
NM_002108.4(HAL):c.*1283T>C rs886049894
NM_002108.4(HAL):c.*1312C>T rs1059845
NM_002108.4(HAL):c.*1359C>A rs192416544
NM_002108.4(HAL):c.*1489A>C rs886049893
NM_002108.4(HAL):c.*227A>C rs886049900
NM_002108.4(HAL):c.*405_*408dup rs71307533
NM_002108.4(HAL):c.*406_*408dup rs71307533
NM_002108.4(HAL):c.*408del rs71307533
NM_002108.4(HAL):c.*4G>A rs1455905331
NM_002108.4(HAL):c.*603A>G rs886049898
NM_002108.4(HAL):c.*673T>C rs2080679383
NM_002108.4(HAL):c.*728T>A rs886049897
NM_002108.4(HAL):c.*836C>T rs117951758
NM_002108.4(HAL):c.-216A>C rs118085647
NM_002108.4(HAL):c.-231del rs886049904
NM_002108.4(HAL):c.1018G>A (p.Val340Met)
NM_002108.4(HAL):c.1163G>A (p.Cys388Tyr) rs1949881722
NM_002108.4(HAL):c.1277C>G (p.Thr426Arg) rs1565988698
NM_002108.4(HAL):c.1414G>A (p.Glu472Lys) rs147706824
NM_002108.4(HAL):c.1453T>C (p.Phe485Leu) rs886049901
NM_002108.4(HAL):c.1801G>A (p.Glu601Lys) rs377498665
NM_002108.4(HAL):c.1823T>C (p.Leu608Pro) rs2080719373
NM_002108.4(HAL):c.308+14C>T rs886049902
NM_002108.4(HAL):c.421A>G (p.Thr141Ala) rs200116994
NM_002108.4(HAL):c.475G>T (p.Glu159Ter) rs1365129216
NM_002108.4(HAL):c.578C>G (p.Ser193Ter)
NM_002108.4(HAL):c.590G>C (p.Gly197Ala) rs541743724
NM_002108.4(HAL):c.623G>T (p.Arg208Leu) rs121434328
NM_002108.4(HAL):c.965G>C (p.Arg322Pro) rs121434330

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.