ClinVar Miner

List of variants in gene SQSTM1 reported as likely benign for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00943
NM_003900.5(SQSTM1):c.*83G>A rs155790 0.00589
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00057
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) rs11548640 0.00046
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=) rs143977783 0.00036
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys) rs139372286 0.00034
NM_003900.5(SQSTM1):c.783C>T (p.His261=) rs145001811 0.00034
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val) rs143746604 0.00026
NM_003900.5(SQSTM1):c.674-17C>T rs372845160 0.00023
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu) rs201795943 0.00021
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00018
NM_003900.5(SQSTM1):c.*66A>C rs140407570 0.00016
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=) rs374985304 0.00011
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=) rs201591177 0.00010
NM_003900.5(SQSTM1):c.755-8G>A rs369581639 0.00010
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=) rs376214713 0.00009
NM_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu) rs375495050 0.00006
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=) rs145688323 0.00006
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu) rs537142935 0.00005
NM_003900.5(SQSTM1):c.673+10G>C rs753023157 0.00005
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=) rs768110162 0.00004
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=) rs145037913 0.00004
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=) rs370203737 0.00004
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His) rs535606152 0.00004
NM_003900.5(SQSTM1):c.570C>T (p.His190=) rs758110159 0.00004
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val) rs202235745 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=) rs200695664 0.00004
NM_003900.5(SQSTM1):c.1104C>T (p.Asp368=) rs750140541 0.00003
NM_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=) rs372518286 0.00003
NM_003900.5(SQSTM1):c.755-10C>T rs763522925 0.00003
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys) rs376158712 0.00002
NM_003900.5(SQSTM1):c.1165+15A>T rs764410841 0.00002
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=) rs745585269 0.00002
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=) rs757587948 0.00002
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=) rs746426826 0.00002
NM_003900.5(SQSTM1):c.532-19C>T rs368559255 0.00002
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys) rs567433223 0.00002
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=) rs747314158 0.00002
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val) rs762767720 0.00002
NM_003900.5(SQSTM1):c.969+19C>T rs566253151 0.00002
NM_003900.5(SQSTM1):c.1032A>G (p.Lys344=) rs982817243 0.00001
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=) rs771948860 0.00001
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=) rs778199086 0.00001
NM_003900.5(SQSTM1):c.1166-6C>T rs762322293 0.00001
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=) rs766437927 0.00001
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=) rs573881131 0.00001
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=) rs987821927 0.00001
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=) rs780842511 0.00001
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=) rs148366738 0.00001
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=) rs150883783 0.00001
NM_003900.5(SQSTM1):c.302-5T>C rs199527061 0.00001
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=) rs770804860 0.00001
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=) rs1378204039 0.00001
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=) rs1476097073 0.00001
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=) rs768088721 0.00001
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=) rs1007964808 0.00001
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=) rs769497182 0.00001
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=) rs1387392776 0.00001
NM_003900.5(SQSTM1):c.531+15T>C rs1280173893 0.00001
NM_003900.5(SQSTM1):c.532-14A>G rs748661765 0.00001
NM_003900.5(SQSTM1):c.532-7C>T rs770329828 0.00001
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=) rs759721454 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=) rs758128093 0.00001
NM_003900.5(SQSTM1):c.674-7A>C rs776278684 0.00001
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=) rs889431769 0.00001
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=) rs774460525 0.00001
NM_003900.5(SQSTM1):c.755-7C>T rs781389243 0.00001
NM_003900.5(SQSTM1):c.755-9C>T rs759140266 0.00001
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu) rs182522590 0.00001
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=) rs779544030 0.00001
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=) rs1280918343 0.00001
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=) rs755859379 0.00001
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=) rs766129922 0.00001
NM_003900.5(SQSTM1):c.970-14G>A rs761682844 0.00001
NM_003900.4(SQSTM1):c.-35G>C rs189132632
NM_003900.5(SQSTM1):c.*175TG[8] rs10688915
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=) rs2113512674
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=) rs2113512810
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=) rs569052431
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=) rs778833279
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=) rs944423329
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=) rs372271201
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
NM_003900.5(SQSTM1):c.1165+10C>T
NM_003900.5(SQSTM1):c.1165+12A>G
NM_003900.5(SQSTM1):c.1165+7G>T
NM_003900.5(SQSTM1):c.1165+9del
NM_003900.5(SQSTM1):c.1166-12C>T rs201463748
NM_003900.5(SQSTM1):c.1166-20C>T
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=) rs1440412378
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=) rs1449666849
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu) rs201795943
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=) rs368933511
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=) rs1554092111
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=) rs1383894920
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=) rs753600779
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=) rs756670021
NM_003900.5(SQSTM1):c.206-11A>G
NM_003900.5(SQSTM1):c.206-4C>G rs370778198
NM_003900.5(SQSTM1):c.206-4C>T rs370778198
NM_003900.5(SQSTM1):c.206-7_206-4del rs779766449
NM_003900.5(SQSTM1):c.206-8C>T
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=) rs752464933
NM_003900.5(SQSTM1):c.301+10T>A
NM_003900.5(SQSTM1):c.301+12C>T rs141530539
NM_003900.5(SQSTM1):c.301+13_301+24del rs1582006453
NM_003900.5(SQSTM1):c.301+20G>A
NM_003900.5(SQSTM1):c.302-10C>A
NM_003900.5(SQSTM1):c.302-10C>T
NM_003900.5(SQSTM1):c.302-11C>T
NM_003900.5(SQSTM1):c.302-13A>G
NM_003900.5(SQSTM1):c.302-15T>C
NM_003900.5(SQSTM1):c.302-20T>C
NM_003900.5(SQSTM1):c.302-4G>A rs1757883398
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
NM_003900.5(SQSTM1):c.327C>T (p.His109=) rs2113487546
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=) rs2113487764
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=) rs2113487897
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=) rs374417389
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=) rs1284664878
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
NM_003900.5(SQSTM1):c.531+14C>G
NM_003900.5(SQSTM1):c.531+15dup rs2113488538
NM_003900.5(SQSTM1):c.531+16G>A
NM_003900.5(SQSTM1):c.531+16G>T
NM_003900.5(SQSTM1):c.531+7A>G rs2113488503
NM_003900.5(SQSTM1):c.532-18T>C
NM_003900.5(SQSTM1):c.532-5C>T
NM_003900.5(SQSTM1):c.532-6C>T rs2113488787
NM_003900.5(SQSTM1):c.532-7C>A rs770329828
NM_003900.5(SQSTM1):c.532-9C>T
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=) rs1582002994
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=) rs2113489068
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=) rs1253593077
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=) rs2113489256
NM_003900.5(SQSTM1):c.673+15G>A
NM_003900.5(SQSTM1):c.673+19C>A
NM_003900.5(SQSTM1):c.673+19C>T
NM_003900.5(SQSTM1):c.673+9T>G rs2113489349
NM_003900.5(SQSTM1):c.674-11A>G
NM_003900.5(SQSTM1):c.674-13G>A rs2113491112
NM_003900.5(SQSTM1):c.674-5C>T
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=) rs140341924
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=) rs766419538
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=) rs889431769
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
NM_003900.5(SQSTM1):c.754+11C>G
NM_003900.5(SQSTM1):c.754+11C>T
NM_003900.5(SQSTM1):c.754+13C>A rs1232662115
NM_003900.5(SQSTM1):c.754+18C>T
NM_003900.5(SQSTM1):c.755-12C>T rs1043468451
NM_003900.5(SQSTM1):c.755-13C>T
NM_003900.5(SQSTM1):c.755-20C>G
NM_003900.5(SQSTM1):c.755-4C>T
NM_003900.5(SQSTM1):c.755-6C>T
NM_003900.5(SQSTM1):c.755-8G>T rs369581639
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=) rs372827450
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=) rs1214357767
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=) rs2113479661
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=) rs2113510724
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=) rs2113510916
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=) rs148984239
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
NM_003900.5(SQSTM1):c.969+14C>T
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
NM_003900.5(SQSTM1):c.970-13A>G rs1013927869
NM_003900.5(SQSTM1):c.970-4C>T
NM_003900.5(SQSTM1):c.970-8T>C
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)

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