ClinVar Miner

List of variants in gene SQSTM1 studied for Paget disease of bone 3

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_003900.5(SQSTM1):c.755-23G>A rs2241349 0.32312
NM_003900.5(SQSTM1):c.*539T>G rs1060271 0.04634
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=) rs10058037 0.03284
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01636
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys) rs61748794 0.01418
NM_003900.5(SQSTM1):c.-25G>A rs74523483 0.01321
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.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_003900.5(SQSTM1):c.*175T>G rs186996560 0.00091
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.-18G>A rs370874635 0.00031
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) rs199931327 0.00019
NM_003900.5(SQSTM1):c.*66A>C rs140407570 0.00016
NM_003900.5(SQSTM1):c.-17C>T rs761120269 0.00013
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_003900.5(SQSTM1):c.*82C>T rs11548622 0.00011
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_003900.5(SQSTM1):c.*60C>T rs369609665 0.00003
NM_003900.5(SQSTM1):c.*624T>G rs11548619 0.00003
NM_003900.5(SQSTM1):c.-26C>T rs748135610 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
NM_003900.5(SQSTM1):c.*39C>G rs376209849 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.806C>T (p.Thr269Ile) rs185313167 0.00001
NM_003900.5(SQSTM1):c.-7G>C rs907862704
NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) rs796052213
NM_003900.5(SQSTM1):c.1224dup (p.Glu409Ter) rs796051869
NM_003900.5(SQSTM1):c.239A>G (p.Asp80Gly) rs780177259
NM_003900.5(SQSTM1):c.253A>G (p.Met85Val) rs886060502
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891

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