ClinVar Miner

List of variants in gene HARS1 reported as uncertain significance for Usher syndrome

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.9:g.140059894_140070834del
NM_001258040.2(HARS1):c.-126T>C rs886060022
NM_002109.6(HARS1):c.-1G>A rs746588443
NM_002109.6(HARS1):c.-23G>A rs545016707
NM_002109.6(HARS1):c.-3G>A rs754488411
NM_002109.6(HARS1):c.-46A>G rs369183621
NM_002109.6(HARS1):c.-64C>T rs113209109
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys)
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly)
NM_002109.6(HARS1):c.1194+4G>A rs370189312
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter)
NM_002109.6(HARS1):c.1252_1254AAG[1] (p.Lys419del)
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
NM_002109.6(HARS1):c.1311+4T>C
NM_002109.6(HARS1):c.1312-8C>T rs772505507
NM_002109.6(HARS1):c.1329_1331GAA[1] (p.Lys444del)
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys)
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu)
NM_002109.6(HARS1):c.1459-1G>C rs1300317175
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
NM_002109.6(HARS1):c.182G>A (p.Gly61Asp) rs886060021
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser)
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560
NM_002109.6(HARS1):c.390C>T (p.Asp130=) rs754863405
NM_002109.6(HARS1):c.397-10_397-9del rs886060020
NM_002109.6(HARS1):c.407C>T (p.Ala136Val)
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter) rs780654800
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)
NM_002109.6(HARS1):c.629_630+4del rs1562008713
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu)
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
NM_002109.6(HARS1):c.729+3A>G rs938453967
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr) rs766324898
NM_002109.6(HARS1):c.811G>A (p.Val271Ile)
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.951+15G>T rs886060019

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