ClinVar Miner

List of variants in gene ARSB studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000046.4(ARSB):c.-302A>G rs163127 0.94480
NM_000046.3(ARSB):c.-1178A>G rs163126 0.84841
NM_000046.3(ARSB):c.-1599C>T rs163125 0.81524
NM_000046.5(ARSB):c.1142+233C>T rs10039384 0.56882
NM_000046.5(ARSB):c.899-200A>G rs180049 0.39294
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000046.5(ARSB):c.499+145G>C rs61216659 0.26932
NM_000046.5(ARSB):c.499+160A>G rs55882246 0.26930
NM_000046.5(ARSB):c.690+271T>G rs7730261 0.26909
NM_000046.5(ARSB):c.313-81G>A rs918580 0.26854
NM_000046.5(ARSB):c.313-77G>A rs918581 0.16622
NM_000046.3(ARSB):c.-564A>G rs59558132 0.16591
NM_000046.3(ARSB):c.-958A>G rs57586329 0.15967
NM_000046.5(ARSB):c.1213+23505T>C rs34152768 0.15647
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_000046.5(ARSB):c.1142+138C>T rs79555942 0.13548
NM_000046.5(ARSB):c.691-186G>A rs11749494 0.13366
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_000046.5(ARSB):c.500-229G>A rs10514114 0.09305
NM_000046.5(ARSB):c.1337-32C>G rs3822473 0.07755
NM_000046.5(ARSB):c.1214-32T>C rs7721866 0.07298
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_000046.5(ARSB):c.1337-217C>T rs57088170 0.04993
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_000046.5(ARSB):c.*60G>A rs2173012 0.03683
NM_000046.5(ARSB):c.*202A>G rs73770019 0.03289
NM_000046.5(ARSB):c.1213+23022G>T rs79156343 0.03179
NM_000046.4(ARSB):c.-265G>A rs72764913 0.02482
NM_000046.5(ARSB):c.1213+149C>G rs73124605 0.02180
NM_000046.5(ARSB):c.1213+22974C>T rs115179157 0.01617
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NC_000005.10:g.78986791G>A rs139096530 0.00836
NM_000046.5(ARSB):c.1143-263A>G rs10044381 0.00671
NM_000046.4(ARSB):c.-246C>T rs180784385 0.00598
NM_000046.5(ARSB):c.*1635G>A rs35597782 0.00552
NM_000046.5(ARSB):c.*2408A>G rs13354324 0.00491
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980 0.00039
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943 0.00017
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser) rs145553034 0.00016
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654 0.00013
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396 0.00012
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile) rs199931771 0.00010
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525 0.00008
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125 0.00004
NM_000046.5(ARSB):c.1336+2T>G rs768012515 0.00003
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102 0.00001
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
GRCh37/hg19 5q14.1(chr5:78106062-78111731)x1
GRCh37/hg19 5q14.1(chr5:78106062-78115511)x1
GRCh37/hg19 5q14.1(chr5:78110117-78111731)x1
GRCh37/hg19 5q14.1(chr5:78110117-78115511)x1
GRCh37/hg19 5q14.1(chr5:78110117-78150147)x1
GRCh37/hg19 5q14.1(chr5:78110117-78180736)x1
GRCh37/hg19 5q14.1(chr5:78152436-78247936)x3
GRCh37/hg19 5q14.1(chr5:78153325-78246593)x3
GRCh37/hg19 5q14.1(chr5:78153325-78250133)x3
GRCh37/hg19 5q14.1(chr5:78170166-78247951)x3
GRCh37/hg19 5q14.1(chr5:78280531-78280745)x4
GRCh37/hg19 5q14.1(chr5:78280531-78281153)x1
GRCh37/hg19 5q14.1(chr5:78280531-78281245)x4
GRCh37/hg19 5q14.1(chr5:78280531-78287810)x0
GRCh37/hg19 5q14.1(chr5:78280531-78292577)x1
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.4(ARSB):c.-410_-407delCTAA rs151289643
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1213+210_1213+212del rs144799820
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.1590C>A (p.Gly530=) rs1580960941
NM_000046.5(ARSB):c.313-286del rs34055862
NM_000046.5(ARSB):c.317G>C (p.Arg106Pro) rs150087888
NM_000046.5(ARSB):c.500-251del rs3839268
NM_000046.5(ARSB):c.500-255A>T rs338465
NM_000046.5(ARSB):c.645C>T (p.Phe215=)
NM_000046.5(ARSB):c.690+136A>G rs78134348
NM_000046.5(ARSB):c.691-171_691-168del rs58376189
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
NM_000046.5(ARSB):c.880G>A (p.Val294Met)
NM_000046.5(ARSB):c.899-10T>G rs727503810
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320

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.