ClinVar Miner

List of variants reported as uncertain significance for Paget disease of bone 2, early-onset

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 374
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HGVS dbSNP gnomAD frequency
NM_003839.4(TNFRSF11A):c.*1368C>T rs12721434 0.00291
NM_003839.4(TNFRSF11A):c.*1060C>T rs572639953 0.00100
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) rs117028614 0.00082
NM_003839.4(TNFRSF11A):c.*2564A>G rs555211772 0.00079
NM_003839.4(TNFRSF11A):c.1279G>A (p.Asp427Asn) rs201402594 0.00073
NM_003839.4(TNFRSF11A):c.29C>T (p.Pro10Leu) rs886054082 0.00070
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_003839.4(TNFRSF11A):c.*1231A>G rs562667048 0.00055
NM_003839.4(TNFRSF11A):c.*447C>T rs571832589 0.00055
NM_003839.4(TNFRSF11A):c.*633C>A rs184568614 0.00037
NM_003839.4(TNFRSF11A):c.999C>T (p.Thr333=) rs138204772 0.00032
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_003839.4(TNFRSF11A):c.*125T>C rs528975442 0.00024
NM_003839.4(TNFRSF11A):c.*126C>T rs548628692 0.00024
NM_003839.4(TNFRSF11A):c.402G>A (p.Ala134=) rs145242277 0.00023
NM_003839.4(TNFRSF11A):c.*705G>A rs886054096 0.00021
NM_003839.4(TNFRSF11A):c.*440C>T rs952341053 0.00019
NM_003839.4(TNFRSF11A):c.543A>T (p.Arg181Ser) rs762733251 0.00019
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly) rs545080321 0.00018
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg) rs376802604 0.00014
NM_003839.4(TNFRSF11A):c.*1908T>G rs993985244 0.00012
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003839.4(TNFRSF11A):c.14C>T (p.Ala5Val) rs757543096 0.00011
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser) rs752506754 0.00010
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 0.00009
NM_003839.4(TNFRSF11A):c.731-11G>A rs372772575 0.00008
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00008
NM_003839.4(TNFRSF11A):c.*322C>A rs372420868 0.00007
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His) rs149424705 0.00007
NM_003839.4(TNFRSF11A):c.*214G>A rs886054085 0.00006
NM_003839.4(TNFRSF11A):c.133C>T (p.Arg45Trp) rs199863919 0.00006
NM_003839.4(TNFRSF11A):c.555T>C (p.His185=) rs149842577 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00006
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His) rs902195752 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 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_003839.4(TNFRSF11A):c.*223G>A rs886054086 0.00005
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln) rs1258386028 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_003839.4(TNFRSF11A):c.*1185C>T rs529021055 0.00004
NM_003839.4(TNFRSF11A):c.497C>T (p.Thr166Met) rs376096275 0.00004
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln) rs200551825 0.00004
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu) rs745356508 0.00004
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile) rs539682696 0.00004
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His) rs761822261 0.00004
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala) rs142719499 0.00004
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met) rs150926394 0.00004
NM_003839.4(TNFRSF11A):c.447A>G (p.Thr149=) rs376113816 0.00003
NM_003839.4(TNFRSF11A):c.784-5G>A rs572449155 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu) rs761423892 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn) rs774986849 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 0.00003
NM_003839.4(TNFRSF11A):c.*423G>A rs980089410 0.00002
NM_003839.4(TNFRSF11A):c.*759C>G rs1048132784 0.00002
NM_003839.4(TNFRSF11A):c.525T>C (p.Cys175=) rs772827300 0.00002
NM_003839.4(TNFRSF11A):c.954C>T (p.Tyr318=) rs200952751 0.00002
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00002
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val) rs772122047 0.00002
NM_003900.5(SQSTM1):c.1166-1G>A rs529512338 0.00002
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp) rs539942101 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser) rs748555662 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=) rs1449269769 0.00002
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe) rs763040103 0.00002
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00002
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val) rs755702835 0.00002
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys) rs548787835 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp) rs758625124 0.00002
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met) rs371832577 0.00002
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg) rs368010261 0.00002
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys) rs769873457 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro) rs745853858 0.00002
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser) rs1194274800 0.00002
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) rs148559402 0.00002
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu) rs376459756 0.00002
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) rs1367793899 0.00002
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr) rs777431896 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_003839.4(TNFRSF11A):c.*420G>C rs1324561922 0.00001
NM_003839.4(TNFRSF11A):c.*501G>A rs886054091 0.00001
NM_003839.4(TNFRSF11A):c.*693T>G rs886054095 0.00001
NM_003839.4(TNFRSF11A):c.*93G>T rs965196006 0.00001
NM_003839.4(TNFRSF11A):c.-22G>T rs1273385769 0.00001
NM_003839.4(TNFRSF11A):c.1018T>A (p.Phe340Ile) rs764498229 0.00001
NM_003839.4(TNFRSF11A):c.1847C>T (p.Ala616Val) rs961173072 0.00001
NM_003839.4(TNFRSF11A):c.33G>C (p.Leu11=) rs369418441 0.00001
NM_003839.4(TNFRSF11A):c.730+6G>C rs554552883 0.00001
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) rs781417955 0.00001
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys) rs535932454 0.00001
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser) rs776303544 0.00001
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val) rs1447276382 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys) rs1471403162 0.00001
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr) rs752910741 0.00001
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val) rs1241285995 0.00001
NM_003900.5(SQSTM1):c.205+6C>T rs1286712928 0.00001
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys) rs368853286 0.00001
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro) rs1208284061 0.00001
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His) rs766411872 0.00001
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys) rs1295820640 0.00001
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) rs1181188986 0.00001
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly) rs752438818 0.00001
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys) rs750784335 0.00001
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln) rs778554903 0.00001
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) rs771903158 0.00001
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val) rs1209470881 0.00001
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn) rs753212399 0.00001
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) rs1309887153 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp) rs1442832120 0.00001
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly) rs377198490 0.00001
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg) rs200731802 0.00001
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln) rs778537429 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu) rs1397353855 0.00001
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu) rs757778292 0.00001
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn) rs1325278483 0.00001
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu) rs1353365075 0.00001
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) rs778679611 0.00001
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr) rs745788957 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val) rs753685955 0.00001
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr) rs757493001 0.00001
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val) rs541356917 0.00001
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg) rs1460912506 0.00001
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) rs1225559170 0.00001
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser) rs1156716975 0.00001
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) rs755411592 0.00001
NC_000005.10:g.(?_179836426)_(179836603_?)del
NC_000005.9:g.(?_178413111)_(179263593_?)dup
NC_000005.9:g.(?_178770758)_(179263603_?)dup
NC_000005.9:g.(?_179260012)_(179260802_?)del
NC_000005.9:g.(?_179260567)_(179263593_?)dup
NC_000005.9:g.(?_179263416)_(179263593_?)del
NM_003839.4(TNFRSF11A):c.*1178T>C rs1338926671
NM_003839.4(TNFRSF11A):c.*1211C>G rs1233818667
NM_003839.4(TNFRSF11A):c.*1301G>A rs45607736
NM_003839.4(TNFRSF11A):c.*1416C>T rs564830684
NM_003839.4(TNFRSF11A):c.*2289G>A rs1439582614
NM_003839.4(TNFRSF11A):c.*320G>C rs368158690
NM_003839.4(TNFRSF11A):c.*454T>G rs886054090
NM_003839.4(TNFRSF11A):c.*464T>A rs1911661759
NM_003839.4(TNFRSF11A):c.*502G>T rs1018177597
NM_003839.4(TNFRSF11A):c.*556A>G rs886054092
NM_003839.4(TNFRSF11A):c.*625A>C rs1258163731
NM_003839.4(TNFRSF11A):c.*751C>T rs886054097
NM_003839.4(TNFRSF11A):c.*811T>C rs886054098
NM_003839.4(TNFRSF11A):c.1542C>G (p.Ser514=) rs1910368771
NM_003839.4(TNFRSF11A):c.1793T>C (p.Leu598Pro) rs1911609900
NM_003839.4(TNFRSF11A):c.284-4G>A rs761709562
NM_003839.4(TNFRSF11A):c.394G>A (p.Glu132Lys) rs867372893
NM_003839.4(TNFRSF11A):c.535G>A (p.Gly179Arg) rs886054084
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser) rs766330561
NM_003839.4(TNFRSF11A):c.68G>A (p.Arg23Gln) rs886054083
NM_003839.4(TNFRSF11A):c.793G>A (p.Gly265Ser) rs1249788220
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=) rs765964997
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn) rs1554091442
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr) rs774512680
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln) rs765610848
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs) rs1758356210
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) rs2113512735
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val) rs2113512757
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys) rs1582022482
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) rs2113512860
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu) rs1298281008
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg) rs2113513106
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
NM_003900.5(SQSTM1):c.1166-2A>G
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr) rs2113524011
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn) rs2113524028
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr) rs1471635040
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser) rs1377640860
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) rs2113524491
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) rs770118706
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His) rs2113524577
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu) rs778461636
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) rs2113480023
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser) rs1411304344
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
NM_003900.5(SQSTM1):c.206-9A>G rs2113484953
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp) rs2113484986
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala) rs1757838607
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile) rs1274176534
NM_003900.5(SQSTM1):c.301+6G>C
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del) rs2113487449
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly) rs1757886934
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile) rs1562654519
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met) rs1582007866
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) rs753212399
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu) rs372480231
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=) rs35266480
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln) rs118160361
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) rs1229776140
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala) rs1392938040
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn) rs1757907176
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) rs1562655554
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg) rs373585056
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val) rs377371202
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) rs1256909021
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu) rs1757909856
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser) rs1370363543
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del) rs747274001
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) rs201263163
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
NM_003900.5(SQSTM1):c.674-18T>G rs1317780724
NM_003900.5(SQSTM1):c.674-8A>G
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) rs1467107148
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
NM_003900.5(SQSTM1):c.754+5G>A
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr) rs753016349
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile) rs182522590
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala) rs988411948
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly) rs988411948
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) rs372827450
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser) rs745853858
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe) rs202119215
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly) rs2113510695
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr) rs760785371
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr) rs764205744
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu) rs754060027
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg) rs1012113887
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys) rs764111892
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg) rs2113510972
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met) rs200695664
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=) rs2113511316
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys) rs1436000961
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys) rs1358261412
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu) rs1185406298
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147

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