ClinVar Miner

List of variants in gene HARS1 reported as likely benign for Usher syndrome

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.477T>C (p.Asp159=) rs750113259 0.00033
NM_002109.6(HARS1):c.653A>G (p.Asp218Gly) rs374172904 0.00027
NM_002109.6(HARS1):c.852C>T (p.Leu284=) rs202034204 0.00025
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848 0.00013
NM_002109.6(HARS1):c.1110C>T (p.Phe370=) rs761267344 0.00009
NM_002109.6(HARS1):c.615C>T (p.Gly205=) rs371470801 0.00009
NM_002109.6(HARS1):c.397-11T>G rs763198737 0.00007
NM_002109.6(HARS1):c.91-17C>A rs373242229 0.00007
NM_002109.6(HARS1):c.1312-8C>T rs772505507 0.00006
NM_002109.6(HARS1):c.1452G>A (p.Arg484=) rs149283940 0.00006
NM_002109.6(HARS1):c.522+17C>T rs201107108 0.00005
NM_002109.6(HARS1):c.622C>T (p.Leu208=) rs754094386 0.00005
NM_002109.6(HARS1):c.1124G>A (p.Arg375His) rs151258227 0.00004
NM_002109.6(HARS1):c.1194+13A>G rs201733468 0.00004
NM_002109.6(HARS1):c.1194+20T>C rs750746864 0.00004
NM_002109.6(HARS1):c.1195-18T>C rs777231572 0.00004
NM_002109.6(HARS1):c.1221G>A (p.Thr407=) rs150274370 0.00004
NM_002109.6(HARS1):c.819A>G (p.Gln273=) rs372436915 0.00004
NM_002109.6(HARS1):c.1086C>T (p.Arg362=) rs139251223 0.00003
NM_002109.6(HARS1):c.1213C>A (p.Arg405=) rs908109064 0.00003
NM_002109.6(HARS1):c.1446G>A (p.Thr482=) rs756452677 0.00003
NM_002109.6(HARS1):c.951+18C>T rs775714094 0.00003
NM_002109.6(HARS1):c.1194+15G>T rs766705218 0.00002
NM_002109.6(HARS1):c.631-19A>G rs779220042 0.00002
NM_002109.6(HARS1):c.669C>T (p.Ile223=) rs761474865 0.00002
NM_002109.6(HARS1):c.1092T>C (p.Asp364=) rs758121959 0.00001
NM_002109.6(HARS1):c.115C>T (p.Leu39=) rs201729757 0.00001
NM_002109.6(HARS1):c.1176C>T (p.Ile392=) rs373400844 0.00001
NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys) rs552434037 0.00001
NM_002109.6(HARS1):c.1227A>C (p.Thr409=) rs771913914 0.00001
NM_002109.6(HARS1):c.1323G>A (p.Leu441=) rs1411849883 0.00001
NM_002109.6(HARS1):c.132G>A (p.Gln44=) rs748645783 0.00001
NM_002109.6(HARS1):c.1398C>T (p.Ile466=) rs766088180 0.00001
NM_002109.6(HARS1):c.1410A>G (p.Glu470=) rs764911936 0.00001
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro) rs201398055 0.00001
NM_002109.6(HARS1):c.165G>A (p.Val55=) rs780352804 0.00001
NM_002109.6(HARS1):c.174C>T (p.Thr58=) rs761695061 0.00001
NM_002109.6(HARS1):c.300+15A>G rs1217420965 0.00001
NM_002109.6(HARS1):c.301-13A>G rs370697844 0.00001
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg) rs749493279 0.00001
NM_002109.6(HARS1):c.501A>T (p.Arg167=) rs763249148 0.00001
NM_002109.6(HARS1):c.522+8T>C rs1408058796 0.00001
NM_002109.6(HARS1):c.630+12C>T rs760967356 0.00001
NM_002109.6(HARS1):c.631-8C>T rs551153305 0.00001
NM_002109.6(HARS1):c.726C>T (p.Asp242=) rs1131035 0.00001
NM_002109.6(HARS1):c.789G>A (p.Val263=) rs780017796 0.00001
NM_002109.6(HARS1):c.933A>G (p.Leu311=) rs762443953 0.00001
NM_002109.6(HARS1):c.951+8A>C rs761161172 0.00001
NM_002109.6(HARS1):c.1008T>C (p.Tyr336=)
NM_002109.6(HARS1):c.1029C>T (p.Thr343=)
NM_002109.6(HARS1):c.1053C>G (p.Pro351=) rs1435212159
NM_002109.6(HARS1):c.1056G>A (p.Leu352=) rs1758394745
NM_002109.6(HARS1):c.105G>A (p.Val35=) rs2149845187
NM_002109.6(HARS1):c.108G>A (p.Ala36=)
NM_002109.6(HARS1):c.1143G>A (p.Gly381=)
NM_002109.6(HARS1):c.1158G>T (p.Val386=) rs2149822667
NM_002109.6(HARS1):c.1194+18G>A rs988352231
NM_002109.6(HARS1):c.1195-21_1195-18del
NM_002109.6(HARS1):c.1311+10G>A
NM_002109.6(HARS1):c.1311+19A>G
NM_002109.6(HARS1):c.1311+8A>C
NM_002109.6(HARS1):c.1312-11G>A
NM_002109.6(HARS1):c.1326C>T (p.Tyr442=) rs2149819731
NM_002109.6(HARS1):c.1344A>G (p.Leu448=) rs1758261367
NM_002109.6(HARS1):c.1356A>G (p.Leu452=)
NM_002109.6(HARS1):c.1362C>T (p.Tyr454=)
NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg) rs147372931
NM_002109.6(HARS1):c.1458+17G>A rs1758248338
NM_002109.6(HARS1):c.1459-16C>T
NM_002109.6(HARS1):c.1459-17_1459-15del
NM_002109.6(HARS1):c.1479C>T (p.Asp493=) rs1366581698
NM_002109.6(HARS1):c.159A>G (p.Lys53=) rs1759375118
NM_002109.6(HARS1):c.174C>A (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.174C>G (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.177C>T (p.Pro59=) rs2149844924
NM_002109.6(HARS1):c.180+10T>C
NM_002109.6(HARS1):c.180+12C>T
NM_002109.6(HARS1):c.180+16T>G rs2149844870
NM_002109.6(HARS1):c.180+20G>C
NM_002109.6(HARS1):c.180+8C>A rs1759371863
NM_002109.6(HARS1):c.181-16T>C
NM_002109.6(HARS1):c.181-8A>C rs2149832909
NM_002109.6(HARS1):c.189A>G (p.Arg63=)
NM_002109.6(HARS1):c.228G>A (p.Val76=)
NM_002109.6(HARS1):c.261C>T (p.His87=)
NM_002109.6(HARS1):c.300+138G>C
NM_002109.6(HARS1):c.300+9T>C
NM_002109.6(HARS1):c.301-12T>C
NM_002109.6(HARS1):c.390C>T (p.Asp130=) rs754863405
NM_002109.6(HARS1):c.396+14C>T rs1319381924
NM_002109.6(HARS1):c.396+9C>T
NM_002109.6(HARS1):c.397-12C>G rs2149826975
NM_002109.6(HARS1):c.465A>G (p.Val155=) rs1202503765
NM_002109.6(HARS1):c.480C>T (p.Asn160=)
NM_002109.6(HARS1):c.507G>A (p.Arg169=) rs2149826709
NM_002109.6(HARS1):c.519G>A (p.Gln173=) rs1131045
NM_002109.6(HARS1):c.522+18G>A
NM_002109.6(HARS1):c.523-13C>A
NM_002109.6(HARS1):c.523-18C>T
NM_002109.6(HARS1):c.523-20G>A
NM_002109.6(HARS1):c.523-4G>A
NM_002109.6(HARS1):c.552C>T (p.Pro184=)
NM_002109.6(HARS1):c.561T>C (p.Pro187=) rs2149825285
NM_002109.6(HARS1):c.627C>T (p.Val209=) rs960026937
NM_002109.6(HARS1):c.630+7G>A
NM_002109.6(HARS1):c.630+8C>T
NM_002109.6(HARS1):c.631-13T>C rs754213668
NM_002109.6(HARS1):c.631-18T>G
NM_002109.6(HARS1):c.631-9T>G rs2149824827
NM_002109.6(HARS1):c.636C>T (p.Asn212=)
NM_002109.6(HARS1):c.640C>A (p.Arg214=)
NM_002109.6(HARS1):c.690G>A (p.Lys230=) rs768157379
NM_002109.6(HARS1):c.714A>G (p.Val238=)
NM_002109.6(HARS1):c.723G>A (p.Leu241=) rs1131036
NM_002109.6(HARS1):c.729+10C>T
NM_002109.6(HARS1):c.729+15A>T
NM_002109.6(HARS1):c.729+16C>T
NM_002109.6(HARS1):c.729+20A>G
NM_002109.6(HARS1):c.730-10G>A
NM_002109.6(HARS1):c.730-10G>C rs1581505929
NM_002109.6(HARS1):c.730-12C>G rs2149824191
NM_002109.6(HARS1):c.730-16G>T
NM_002109.6(HARS1):c.753T>C (p.Asn251=)
NM_002109.6(HARS1):c.762G>A (p.Val254=)
NM_002109.6(HARS1):c.771G>A (p.Lys257=) rs1758443206
NM_002109.6(HARS1):c.774C>T (p.Gly258=)
NM_002109.6(HARS1):c.783T>G (p.Pro261=)
NM_002109.6(HARS1):c.804G>A (p.Gly268=)
NM_002109.6(HARS1):c.810T>C (p.Tyr270=)
NM_002109.6(HARS1):c.824-17del
NM_002109.6(HARS1):c.855G>A (p.Gln285=) rs1343896862
NM_002109.6(HARS1):c.882G>A (p.Gln294=) rs1758417684
NM_002109.6(HARS1):c.885C>G (p.Ala295=)
NM_002109.6(HARS1):c.885C>T (p.Ala295=) rs2149823444
NM_002109.6(HARS1):c.891G>A (p.Glu297=)
NM_002109.6(HARS1):c.897G>C (p.Leu299=) rs2149823428
NM_002109.6(HARS1):c.91-13T>A
NM_002109.6(HARS1):c.91-7T>C rs2149845275
NM_002109.6(HARS1):c.924C>T (p.Tyr308=) rs2149823372
NM_002109.6(HARS1):c.93C>T (p.Ile31=)
NM_002109.6(HARS1):c.951+12T>C
NM_002109.6(HARS1):c.952-4A>G rs780815128
NM_002109.6(HARS1):c.952-6C>T
NM_002109.6(HARS1):c.954C>T (p.Ile318=) rs1758406223
NM_002109.6(HARS1):c.963C>T (p.Asp321=) rs1267161123
NM_002109.6(HARS1):c.976C>A (p.Arg326=) rs1248042019
NM_002109.6(HARS1):c.981G>T (p.Gly327=) rs1758401892
NM_002109.6(HARS1):c.993C>T (p.Tyr331=)
NM_002109.6(HARS1):c.996T>G (p.Thr332=)

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