ClinVar Miner

List of variants reported as uncertain significance for secondary avascular necrosis

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) rs114895145 0.00329
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000488.4(SERPINC1):c.529C>T (p.Arg177Cys) rs143521873 0.00041
NM_000488.4(SERPINC1):c.-57G>A rs372524963 0.00029
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn) rs61736655 0.00029
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=) rs370190321 0.00026
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr) rs772809607 0.00021
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) rs148593044 0.00019
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000488.4(SERPINC1):c.1066C>T (p.Arg356Cys) rs376752370 0.00013
NM_000157.4(GBA1):c.168C>T (p.Val56=) rs145773486 0.00011
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_000488.3(SERPINC1):c.-88G>A rs376206880 0.00005
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro) rs372820797 0.00005
NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile) rs567550044 0.00005
NM_000157.4(GBA1):c.1455A>G (p.Ala485=) rs199928507 0.00004
NM_000488.4(SERPINC1):c.1096C>G (p.Gln366Glu) rs565091601 0.00004
NM_000488.4(SERPINC1):c.1172G>A (p.Arg391Gln) rs201541724 0.00004
NM_000488.4(SERPINC1):c.595G>A (p.Gly199Arg) rs778341415 0.00004
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His) rs377588972 0.00004
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_000488.4(SERPINC1):c.100G>A (p.Gly34Arg) rs773254902 0.00003
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00003
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys) rs764695432 0.00002
NM_000488.4(SERPINC1):c.883G>A (p.Val295Met) rs201381904 0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn) rs1571966221 0.00001
NM_000412.5(HRG):c.736C>A (p.Pro246Thr) rs780950869 0.00001
NM_000412.5(HRG):c.946C>T (p.Pro316Ser) rs903824710 0.00001
NM_000488.4(SERPINC1):c.1054A>G (p.Met352Val) rs886045594 0.00001
NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys) rs765761813 0.00001
NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val) rs121909568 0.00001
NM_000488.4(SERPINC1):c.1278G>A (p.Ser426=) rs773792958 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.1342C>T (p.Pro448Ser) rs376029223 0.00001
NM_000488.4(SERPINC1):c.233G>A (p.Arg78Gln) rs774294043 0.00001
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr) rs1445653081 0.00001
NM_000488.4(SERPINC1):c.408+4C>T rs201551398 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His) rs878854020 0.00001
NM_000488.4(SERPINC1):c.598G>C (p.Ala200Pro) rs483352853 0.00001
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr) rs749510661 0.00001
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe) rs1657686098 0.00001
NM_000488.4(SERPINC1):c.975C>G (p.Ala325=) rs200857896 0.00001
NM_000488.4(SERPINC1):c.980T>C (p.Val327Ala) rs773399107 0.00001
NC_000001.10:g.(?_173876568)_(173879100_?)dup
NC_000001.10:g.(?_173876568)_(173886568_?)dup
NC_000001.11:g.155208308_155208441del
NM_000157.4(GBA1):c.1077C>A (p.Ala359=) rs1671753933
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn) rs779958429
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_000157.4(GBA1):c.155C>T (p.Ser52Leu)
NM_000157.4(GBA1):c.370A>G (p.Met124Val)
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
NM_000157.4(GBA1):c.83T>C (p.Leu28Ser)
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr) rs1671824775
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)
NM_000412.5(HRG):c.1194_1196del (p.His400del)
NM_000412.5(HRG):c.227C>T (p.Ser76Leu)
NM_000412.5(HRG):c.372del (p.Phe124fs)
NM_000412.5(HRG):c.745C>T (p.His249Tyr) rs2108584875
NM_000488.4(SERPINC1):c.-175_-174delTA
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
NM_000488.4(SERPINC1):c.1063T>G (p.Phe355Val)
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val) rs1657673747
NM_000488.4(SERPINC1):c.1100T>G (p.Leu367Arg)
NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1152A>G (p.Pro384=)
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp) rs878854018
NM_000488.4(SERPINC1):c.1165G>A (p.Glu389Lys)
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn) rs920003404
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
NM_000488.4(SERPINC1):c.1219-8A>G
NM_000488.4(SERPINC1):c.1231G>C (p.Gly411Arg) rs2102773346
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
NM_000488.4(SERPINC1):c.1239A>C (p.Glu413Asp)
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr) rs1008874845
NM_000488.4(SERPINC1):c.1271G>A (p.Gly424Asp) rs121909566
NM_000488.4(SERPINC1):c.1275T>C (p.Arg425=) rs1227097057
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.1312A>G (p.Arg438Gly)
NM_000488.4(SERPINC1):c.1313G>T (p.Arg438Met)
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys) rs2102773041
NM_000488.4(SERPINC1):c.1351_1352dup (p.Ile452fs)
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp) rs1572084448
NM_000488.4(SERPINC1):c.1384T>C (p.Cys462Arg)
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
NM_000488.4(SERPINC1):c.17T>C (p.Ile6Thr)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.223G>A (p.Ala75Thr)
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser) rs2102789848
NM_000488.4(SERPINC1):c.265_266delinsGC (p.Arg89Ala)
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) rs1657913203
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu) rs2102789784
NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile) rs371222224
NM_000488.4(SERPINC1):c.365C>A (p.Thr122Asn) rs1253864431
NM_000488.4(SERPINC1):c.391C>G (p.Leu131Val)
NM_000488.4(SERPINC1):c.399A>C (p.Gln133His) rs878854019
NM_000488.4(SERPINC1):c.408+5G>C
NM_000488.4(SERPINC1):c.408G>A (p.Glu136=) rs763087077
NM_000488.4(SERPINC1):c.409-12del rs201656611
NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala) rs1657792806
NM_000488.4(SERPINC1):c.482G>A (p.Arg161Gln) rs121909563
NM_000488.4(SERPINC1):c.485T>C (p.Leu162Pro) rs1657788029
NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.543C>A (p.Asp181Glu)
NM_000488.4(SERPINC1):c.547T>C (p.Ser183Pro) rs2102785961
NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
NM_000488.4(SERPINC1):c.565_567del (p.Thr189del)
NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000488.4(SERPINC1):c.603G>T (p.Lys201Asn)
NM_000488.4(SERPINC1):c.624+5_624+12del
NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
NM_000488.4(SERPINC1):c.662G>C (p.Trp221Ser) rs1553218111
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu) rs1657744293
NM_000488.4(SERPINC1):c.670A>C (p.Asn224His)
NM_000488.4(SERPINC1):c.74G>A (p.Gly25Asp)
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
NM_000488.4(SERPINC1):c.790G>C (p.Glu264Gln)
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) rs1572088824
NM_000488.4(SERPINC1):c.79T>C (p.Trp27Arg)
NM_000488.4(SERPINC1):c.835T>C (p.Cys279Arg)
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys) rs1572088737
NM_000488.4(SERPINC1):c.858G>C (p.Gln286His)
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val) rs1404578967
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)
NM_000488.4(SERPINC1):c.938T>C (p.Met313Thr)

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