ClinVar Miner

List of variants in gene HAL reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
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.*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.*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.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.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.*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.*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.-231del rs886049904
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.590G>C (p.Gly197Ala) rs541743724

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