ClinVar Miner

List of variants in gene SQSTM1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.1165+219G>A rs248237 0.66616
NM_003900.5(SQSTM1):c.755-190G>C rs2450484 0.66535
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62550
NM_003900.5(SQSTM1):c.970-93G>A rs155787 0.58027
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_003900.5(SQSTM1):c.673+152T>G rs55993594 0.50963
NM_003900.5(SQSTM1):c.755-23G>A rs2241349 0.33275
NM_003900.5(SQSTM1):c.969+85C>G rs269446 0.17118
NM_003900.5(SQSTM1):c.970-109C>G rs2241350 0.10655
NM_003900.5(SQSTM1):c.1165+245A>G rs35968447 0.10061
NM_003900.5(SQSTM1):c.970-59T>C rs155788 0.09850
NM_003900.5(SQSTM1):c.755-197T>C rs55714456 0.09023
NM_003900.5(SQSTM1):c.1165+113C>A rs10075090 0.06463
NM_003900.5(SQSTM1):c.970-78C>T rs116830181 0.05496
NM_003900.5(SQSTM1):c.674-94G>A rs11948610 0.05377
NM_003900.5(SQSTM1):c.301+77C>T rs7711505 0.04617
NM_003900.5(SQSTM1):c.1165+278C>T rs72813731 0.04592
NM_003900.5(SQSTM1):c.302-269C>T rs113510309 0.04433
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_003900.5(SQSTM1):c.1165+177G>A rs72813729 0.03127
NM_003900.5(SQSTM1):c.301+151G>A rs114666120 0.03099
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=) rs10058037 0.03071
NM_003900.5(SQSTM1):c.673+237T>G rs79838921 0.02131
NM_003900.5(SQSTM1):c.206-131T>C rs114725045 0.01988
NM_003900.5(SQSTM1):c.532-23C>T rs115380981 0.01949
NM_003900.5(SQSTM1):c.673+157T>A rs77595025 0.01885
NM_003900.5(SQSTM1):c.674-71A>G rs11958669 0.01884
NM_003900.5(SQSTM1):c.673+167C>G rs76219234 0.01882
NM_003900.5(SQSTM1):c.302-58C>T rs114761223 0.01879
NM_003900.5(SQSTM1):c.673+277G>A rs114397195 0.01878
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01539
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_003900.5(SQSTM1):c.969+35G>A rs7735805 0.01470
NM_001142298.2(SQSTM1):c.-47-2346C>T rs116436326 0.01414
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys) rs61748794 0.01318
NM_001142298.2(SQSTM1):c.-47-2240G>A rs73351637 0.01117
NM_003900.5(SQSTM1):c.754+134C>T rs56225166 0.01112
NM_003900.5(SQSTM1):c.301+40C>T rs10464092 0.01012
NM_001142298.2(SQSTM1):c.-47-2160G>C rs576610830 0.00886
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00865
NM_003900.5(SQSTM1):c.673+287C>T rs13358321 0.00788
NM_003900.5(SQSTM1):c.1165+251G>A rs114698136 0.00781
NM_003900.5(SQSTM1):c.673+127A>G rs143955370 0.00434
NM_003900.5(SQSTM1):c.970-104C>T rs189727708 0.00429
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_003900.5(SQSTM1):c.302-96C>T rs113087413 0.00352
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00133
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00077
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=) rs148984239 0.00073
NM_001142298.2(SQSTM1):c.-47-2192T>C rs534068817 0.00069
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00068
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys) rs139372286 0.00034
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00027
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val) rs143746604 0.00026
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 0.00011
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00007
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00007
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu) rs537142935 0.00005
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00005
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val) rs202235745 0.00004
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr) rs771657338 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00003
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 0.00003
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys) rs567433223 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=) rs766437927 0.00001
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503 0.00001
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly) rs1166729262 0.00001
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098 0.00001
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.914A>G (p.Gln305Arg) rs1428718517 0.00001
NM_001142298.2(SQSTM1):c.-47-2211G>A rs2516294
NM_001142298.2(SQSTM1):c.-47-2236del rs199685457
NM_003900.4(SQSTM1):c.-35G>C rs189132632
NM_003900.5(SQSTM1):c.*175TG[8] rs10688915
NM_003900.5(SQSTM1):c.101_118del (p.Glu34_Ala39del) rs1757753971
NM_003900.5(SQSTM1):c.1031AAG[1] (p.Glu345del)
NM_003900.5(SQSTM1):c.105_123dup (p.Gly42fs) rs1064794783
NM_003900.5(SQSTM1):c.1121C>T (p.Pro374Leu) rs2480248258
NM_003900.5(SQSTM1):c.1156C>A (p.Leu386Ile)
NM_003900.5(SQSTM1):c.1165+86_1165+88del rs61480353
NM_003900.5(SQSTM1):c.1166-2A>G rs2480264648
NM_003900.5(SQSTM1):c.116C>T (p.Ala39Val) rs1378410118
NM_003900.5(SQSTM1):c.1194C>T (p.Leu398=)
NM_003900.5(SQSTM1):c.1203G>A (p.Met401Ile)
NM_003900.5(SQSTM1):c.1243A>G (p.Arg415Gly) rs2480265164
NM_003900.5(SQSTM1):c.1282C>G (p.Leu428Val)
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln) rs2480199234
NM_003900.5(SQSTM1):c.301+161C>T rs41285565
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) rs1331685476
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
NM_003900.5(SQSTM1):c.754+213C>A rs116597749
NM_003900.5(SQSTM1):c.754+5G>A rs2480219235
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs) rs1273214757
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.877C>A (p.Pro293Thr) rs1758322899
NM_003900.5(SQSTM1):c.904G>A (p.Gly302Ser)
NM_003900.5(SQSTM1):c.934_936delinsGGA (p.Arg312Gly) rs1554091355
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147

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