ClinVar Miner

List of variants in gene ARSB studied for not provided

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Gene type:
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Total variants: 62
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HGVS dbSNP
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(chr5:78153325-78246593)x3
GRCh37/hg19 5q14.1(chr5:78153325-78250133)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
NC_000005.10:g.78969478del
NC_000005.9:g.78282670G>A
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1142+233C>T
NM_000046.5(ARSB):c.1143-27A>C rs25415
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser) rs145553034
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.118_134del (p.Gly40fs) rs398123123
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs) rs766772376
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr) rs779228581
NM_000046.5(ARSB):c.200T>A (p.Ile67Asn) rs1064793026
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.312+29C>T rs537289342
NM_000046.5(ARSB):c.313-26T>C rs3733895
NM_000046.5(ARSB):c.313-77G>A
NM_000046.5(ARSB):c.313-81G>A
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.317G>C (p.Arg106Pro) rs150087888
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.499+145G>C
NM_000046.5(ARSB):c.499+160A>G
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.690+271T>G
NM_000046.5(ARSB):c.691-22T>C rs6870443
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.899-10T>G rs727503810
NM_000046.5(ARSB):c.899-200A>G
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg) rs398123124
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448

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