ClinVar Miner

List of variants reported as uncertain significance for inherited focal segmental glomerulosclerosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 546
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser) rs766635668 0.00138
NM_000278.5(PAX2):c.491C>A (p.Thr164Asn) rs370214925 0.00026
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439 0.00016
NM_022489.4(INF2):c.2054T>C (p.Ile685Thr) rs201203979 0.00015
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser) rs767748953 0.00012
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315 0.00010
NM_000278.5(PAX2):c.616+6G>C rs180903301 0.00009
NM_000278.5(PAX2):c.117G>T (p.Gln39His) rs141576824 0.00008
NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn) rs138490772 0.00007
NM_000278.5(PAX2):c.529G>A (p.Ala177Thr) rs749684940 0.00007
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys) rs569586169 0.00007
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr) rs762960061 0.00006
NM_022489.4(INF2):c.507+6C>T rs749868411 0.00006
NM_000278.5(PAX2):c.478G>A (p.Ala160Thr) rs201383632 0.00005
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser) rs767995614 0.00005
NM_000278.5(PAX2):c.739C>T (p.Arg247Cys) rs756570535 0.00005
NM_022489.4(INF2):c.1950-3C>A rs777132952 0.00005
NM_000278.5(PAX2):c.584G>A (p.Arg195His) rs201880460 0.00004
NM_000278.5(PAX2):c.641A>G (p.Asn214Ser) rs148402788 0.00004
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.2418+3G>A rs748896420 0.00004
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val) rs753263522 0.00004
NM_022489.4(INF2):c.3719A>G (p.Asn1240Ser) rs1306025921 0.00004
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu) rs1026924897 0.00004
NM_000278.5(PAX2):c.220G>A (p.Glu74Lys) rs754146050 0.00003
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.2801C>T (p.Ala934Val) rs1001885245 0.00003
NM_022489.4(INF2):c.3223C>T (p.Arg1075Cys) rs376685243 0.00003
NM_000278.5(PAX2):c.445C>T (p.Pro149Ser) rs1401507282 0.00002
NM_000278.5(PAX2):c.976G>A (p.Gly326Ser) rs375804552 0.00002
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr) rs1208616690 0.00002
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu) rs1375222598 0.00002
NM_022489.4(INF2):c.2005G>A (p.Val669Met) rs756038490 0.00002
NM_022489.4(INF2):c.2053-3C>T rs754983807 0.00002
NM_022489.4(INF2):c.3040+2T>C rs1437272364 0.00002
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs) rs763988639 0.00002
NM_022489.4(INF2):c.951C>A (p.Ser317Arg) rs763642754 0.00002
NM_000278.5(PAX2):c.1021+183T>C rs1211217411 0.00001
NM_000278.5(PAX2):c.1021+233A>T rs606231415 0.00001
NM_000278.5(PAX2):c.1029G>C (p.Glu343Asp) rs370756373 0.00001
NM_000278.5(PAX2):c.103G>A (p.Asp35Asn) rs968200750 0.00001
NM_000278.5(PAX2):c.120C>T (p.Arg40=) rs747639516 0.00001
NM_000278.5(PAX2):c.320C>T (p.Pro107Leu) rs774231216 0.00001
NM_000278.5(PAX2):c.452C>A (p.Pro151Gln) rs199919058 0.00001
NM_000278.5(PAX2):c.482C>T (p.Pro161Leu) rs1403302124 0.00001
NM_000278.5(PAX2):c.506C>T (p.Thr169Met) rs758091898 0.00001
NM_000278.5(PAX2):c.616+4G>A rs1490836600 0.00001
NM_000278.5(PAX2):c.740G>A (p.Arg247His) rs747639879 0.00001
NM_000278.5(PAX2):c.757G>A (p.Val253Ile) rs770703982 0.00001
NM_000278.5(PAX2):c.775C>A (p.His259Asn) rs896457846 0.00001
NM_000278.5(PAX2):c.793-3C>T rs1291270344 0.00001
NM_000278.5(PAX2):c.803A>T (p.Tyr268Phe) rs548691376 0.00001
NM_000278.5(PAX2):c.845C>T (p.Ser282Leu) rs757989097 0.00001
NM_000278.5(PAX2):c.907C>G (p.Pro303Ala) rs761764477 0.00001
NM_000278.5(PAX2):c.964G>A (p.Val322Met) rs777775098 0.00001
NM_022489.4(INF2):c.1109G>T (p.Gly370Val) rs772790262 0.00001
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln) rs775331561 0.00001
NM_022489.4(INF2):c.1414C>A (p.Pro472Thr) rs1316096936 0.00001
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala) rs1271375014 0.00001
NM_022489.4(INF2):c.1436C>T (p.Pro479Leu) rs1203712573 0.00001
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) rs1218562289 0.00001
NM_022489.4(INF2):c.1471C>T (p.Pro491Ser) rs1378009593 0.00001
NM_022489.4(INF2):c.1484C>T (p.Pro495Leu) rs756913857 0.00001
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr) rs751942076 0.00001
NM_022489.4(INF2):c.1593G>A (p.Ala531=) rs186326868 0.00001
NM_022489.4(INF2):c.1601T>C (p.Met534Thr) rs772037388 0.00001
NM_022489.4(INF2):c.1612A>G (p.Ile538Val) rs377402690 0.00001
NM_022489.4(INF2):c.1646C>T (p.Ala549Val) rs1191795011 0.00001
NM_022489.4(INF2):c.1734T>G (p.Arg578=) rs762313731 0.00001
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys) rs775320095 0.00001
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp) rs1047172155 0.00001
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp) rs1378876029 0.00001
NM_022489.4(INF2):c.2090A>T (p.Lys697Met) rs1256555211 0.00001
NM_022489.4(INF2):c.2128G>C (p.Ala710Pro) rs373806518 0.00001
NM_022489.4(INF2):c.2180C>T (p.Ala727Val) rs1156240396 0.00001
NM_022489.4(INF2):c.2310_2310+2dup rs1424859343 0.00001
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr) rs774280485 0.00001
NM_022489.4(INF2):c.2491A>T (p.Ile831Phe) rs751004003 0.00001
NM_022489.4(INF2):c.2585A>G (p.Gln862Arg) rs1471229828 0.00001
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala) rs753660816 0.00001
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) rs1314746427 0.00001
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp) rs926222455 0.00001
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp) rs1243295333 0.00001
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala) rs1473555311 0.00001
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.2879-3C>T rs757145852 0.00001
NM_022489.4(INF2):c.2908G>A (p.Val970Met) rs977752085 0.00001
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser) rs776214674 0.00001
NM_022489.4(INF2):c.3037C>A (p.Pro1013Thr) rs1389268909 0.00001
NM_022489.4(INF2):c.3041-3C>T rs1157403781 0.00001
NM_022489.4(INF2):c.3083G>A (p.Arg1028His) rs1368908308 0.00001
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp) rs751648279 0.00001
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala) rs1316234873 0.00001
NM_022489.4(INF2):c.3305C>T (p.Pro1102Leu) rs779176784 0.00001
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) rs759925463 0.00001
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu) rs751351877 0.00001
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091 0.00001
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro) rs754128326 0.00001
NM_022489.4(INF2):c.368G>A (p.Gly123Asp) rs994483790 0.00001
NM_022489.4(INF2):c.3712G>A (p.Asp1238Asn) rs1290467030 0.00001
NM_022489.4(INF2):c.410T>G (p.Val137Gly) rs760611306 0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met) rs767698763 0.00001
NM_022489.4(INF2):c.571G>A (p.Val191Met) rs1416500072 0.00001
NM_022489.4(INF2):c.634C>T (p.Arg212Cys) rs748481552 0.00001
NM_022489.4(INF2):c.667G>A (p.Gly223Arg) rs1209201341 0.00001
NM_022489.4(INF2):c.695G>A (p.Arg232His) rs767940514 0.00001
NM_022489.4(INF2):c.706C>G (p.Leu236Val) rs774921607 0.00001
NM_022489.4(INF2):c.745G>A (p.Glu249Lys) rs375843743 0.00001
NM_022489.4(INF2):c.76A>C (p.Thr26Pro) rs1889488972 0.00001
NM_022489.4(INF2):c.782G>A (p.Arg261Gln) rs749543418 0.00001
NM_022489.4(INF2):c.986-9C>G rs761206810 0.00001
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105167703)_(105213340_?)dup
NC_000014.8:g.(?_105167703)_(105861009_?)del
NC_000014.8:g.(?_105172352)_(105181676_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_104701356)_(104703963_?)del
NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)
NM_000278.5(PAX2):c.1021+143C>G
NM_000278.5(PAX2):c.1021+167C>T
NM_000278.5(PAX2):c.1021+192C>G
NM_000278.5(PAX2):c.1021+192C>T
NM_000278.5(PAX2):c.1021+210A>G
NM_000278.5(PAX2):c.1021+218C>T rs2133985216
NM_000278.5(PAX2):c.1021+235T>C rs1848500707
NM_000278.5(PAX2):c.1021+236G>C
NM_000278.5(PAX2):c.1021+238A>G rs2133985249
NM_000278.5(PAX2):c.1021+243A>G
NM_000278.5(PAX2):c.1022G>T (p.Gly341Val)
NM_000278.5(PAX2):c.1023G>T (p.Gly341=)
NM_000278.5(PAX2):c.1026C>T (p.Ser342=)
NM_000278.5(PAX2):c.103G>C (p.Asp35His)
NM_000278.5(PAX2):c.1041C>T (p.Asn347=)
NM_000278.5(PAX2):c.1070A>G (p.Tyr357Cys) rs2133989654
NM_000278.5(PAX2):c.1087T>G (p.Phe363Val)
NM_000278.5(PAX2):c.165C>T (p.Ser55=) rs1845370334
NM_000278.5(PAX2):c.182G>A (p.Ser61Asn) rs2133833987
NM_000278.5(PAX2):c.194T>C (p.Val65Ala)
NM_000278.5(PAX2):c.198C>G (p.Ser66Arg)
NM_000278.5(PAX2):c.212+5G>A
NM_000278.5(PAX2):c.221_223del (p.Glu74_Thr75delinsAla)
NM_000278.5(PAX2):c.244G>T (p.Val82Leu) rs2133836298
NM_000278.5(PAX2):c.248T>C (p.Ile83Thr) rs2133836322
NM_000278.5(PAX2):c.311G>A (p.Arg104Gln)
NM_000278.5(PAX2):c.326T>C (p.Met109Thr)
NM_000278.5(PAX2):c.327G>A (p.Met109Ile)
NM_000278.5(PAX2):c.337G>A (p.Glu113Lys) rs1481932003
NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)
NM_000278.5(PAX2):c.350G>C (p.Arg117Pro) rs773306707
NM_000278.5(PAX2):c.352C>G (p.Leu118Val)
NM_000278.5(PAX2):c.356T>C (p.Leu119Pro) rs1589813707
NM_000278.5(PAX2):c.361G>A (p.Glu121Lys)
NM_000278.5(PAX2):c.361G>C (p.Glu121Gln) rs1162043378
NM_000278.5(PAX2):c.367A>G (p.Ile123Val)
NM_000278.5(PAX2):c.374A>T (p.Asp125Val) rs2133836581
NM_000278.5(PAX2):c.410+3G>A
NM_000278.5(PAX2):c.411-14_411-10dup rs1227571557
NM_000278.5(PAX2):c.43+3G>A
NM_000278.5(PAX2):c.432G>T (p.Gln144His)
NM_000278.5(PAX2):c.44-12_44-8dup rs1845364215
NM_000278.5(PAX2):c.449C>T (p.Thr150Met)
NM_000278.5(PAX2):c.451C>G (p.Pro151Ala)
NM_000278.5(PAX2):c.452C>T (p.Pro151Leu) rs199919058
NM_000278.5(PAX2):c.460G>A (p.Ala154Thr) rs778742674
NM_000278.5(PAX2):c.461C>T (p.Ala154Val)
NM_000278.5(PAX2):c.490A>G (p.Thr164Ala) rs2133894286
NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)
NM_000278.5(PAX2):c.497-9C>G
NM_000278.5(PAX2):c.497T>C (p.Val166Ala) rs764844605
NM_000278.5(PAX2):c.501C>T (p.Pro167=)
NM_000278.5(PAX2):c.520G>A (p.Val174Ile)
NM_000278.5(PAX2):c.527G>C (p.Ser176Thr)
NM_000278.5(PAX2):c.533C>G (p.Ser178Cys) rs2133897760
NM_000278.5(PAX2):c.538G>A (p.Asp180Asn) rs1846612619
NM_000278.5(PAX2):c.550T>A (p.Ser184Thr)
NM_000278.5(PAX2):c.551C>A (p.Ser184Tyr)
NM_000278.5(PAX2):c.562A>G (p.Asn188Asp)
NM_000278.5(PAX2):c.587C>T (p.Ser196Phe)
NM_000278.5(PAX2):c.595G>C (p.Glu199Gln) rs1262508509
NM_000278.5(PAX2):c.607C>T (p.Arg203Cys)
NM_000278.5(PAX2):c.608G>A (p.Arg203His)
NM_000278.5(PAX2):c.608G>C (p.Arg203Pro) rs201089410
NM_000278.5(PAX2):c.638C>G (p.Pro213Arg)
NM_000278.5(PAX2):c.648T>G (p.Asp216Glu) rs1564737100
NM_000278.5(PAX2):c.656G>A (p.Ser219Asn) rs200491094
NM_000278.5(PAX2):c.656G>C (p.Ser219Thr)
NM_000278.5(PAX2):c.659G>A (p.Gly220Asp)
NM_000278.5(PAX2):c.665A>G (p.Asp222Gly)
NM_000278.5(PAX2):c.673C>T (p.Arg225Trp)
NM_000278.5(PAX2):c.680A>G (p.His227Arg)
NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)
NM_000278.5(PAX2):c.706C>A (p.Gln236Lys) rs75399846
NM_000278.5(PAX2):c.70G>C (p.Gly24Arg) rs1845366198
NM_000278.5(PAX2):c.71G>C (p.Gly24Ala) rs201239919
NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)
NM_000278.5(PAX2):c.751C>T (p.Pro251Ser)
NM_000278.5(PAX2):c.76G>A (p.Val26Met)
NM_000278.5(PAX2):c.76G>C (p.Val26Leu) rs1022509510
NM_000278.5(PAX2):c.76G>T (p.Val26Leu) rs1022509510
NM_000278.5(PAX2):c.793-14del
NM_000278.5(PAX2):c.793-15TC[3]
NM_000278.5(PAX2):c.793G>C (p.Gly265Arg) rs1847901504
NM_000278.5(PAX2):c.794G>A (p.Gly265Glu) rs1847901674
NM_000278.5(PAX2):c.797_798inv (p.Asn266Ser)
NM_000278.5(PAX2):c.812C>G (p.Pro271Arg)
NM_000278.5(PAX2):c.814G>A (p.Ala272Thr) rs762149868
NM_000278.5(PAX2):c.886G>A (p.Val296Met)
NM_000278.5(PAX2):c.8T>A (p.Met3Lys) rs754968736
NM_000278.5(PAX2):c.8T>C (p.Met3Thr)
NM_000278.5(PAX2):c.917C>T (p.Thr306Ile)
NM_000278.5(PAX2):c.920-4C>T
NM_000278.5(PAX2):c.922C>T (p.Arg308Cys)
NM_000278.5(PAX2):c.923G>A (p.Arg308His)
NM_000278.5(PAX2):c.92G>A (p.Arg31Gln)
NM_000278.5(PAX2):c.957C>G (p.Pro319=)
NM_000278.5(PAX2):c.959C>G (p.Pro320Arg)
NM_000278.5(PAX2):c.967C>T (p.Pro323Ser)
NM_000278.5(PAX2):c.975T>A (p.Thr325=)
NM_022489.4(INF2):c.1010T>A (p.Val337Glu)
NM_022489.4(INF2):c.1039C>T (p.Arg347Ter) rs2140666903
NM_022489.4(INF2):c.1049C>A (p.Pro350Gln)
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg) rs1889825135
NM_022489.4(INF2):c.1063_1080dup (p.Val360_Gln361insLysAlaHisLysSerVal)
NM_022489.4(INF2):c.1076G>A (p.Ser359Asn)
NM_022489.4(INF2):c.1093G>A (p.Asp365Asn)
NM_022489.4(INF2):c.1095C>A (p.Asp365Glu) rs2140667164
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly) rs1889828741
NM_022489.4(INF2):c.1111A>G (p.Ser371Gly)
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1133C>A (p.Thr378Asn)
NM_022489.4(INF2):c.1177G>A (p.Ala393Thr)
NM_022489.4(INF2):c.1177G>C (p.Ala393Pro) rs2140667487
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln) rs374769850
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala) rs1416561484
NM_022489.4(INF2):c.1193A>G (p.Asp398Gly)
NM_022489.4(INF2):c.119G>C (p.Arg40Pro) rs1437016055
NM_022489.4(INF2):c.1211G>T (p.Ser404Ile) rs759535604
NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del)
NM_022489.4(INF2):c.1225T>A (p.Ser409Thr)
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu) rs1486781241
NM_022489.4(INF2):c.1228_1229insCCAGAGTGAG (p.Gln410fs) rs2140667760
NM_022489.4(INF2):c.1243G>A (p.Glu415Lys)
NM_022489.4(INF2):c.1253C>T (p.Ala418Val)
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[6] (p.Pro428_Leu429insProProProPro)
NM_022489.4(INF2):c.1268C>A (p.Pro423Gln)
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu) rs1263040681
NM_022489.4(INF2):c.1270C>G (p.Pro424Ala)
NM_022489.4(INF2):c.1275_1286del (p.Pro426_Leu429del)
NM_022489.4(INF2):c.1276C>A (p.Pro426Thr) rs766635668
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu) rs1889838927
NM_022489.4(INF2):c.1286del (p.Leu429fs)
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del) rs1566781602
NM_022489.4(INF2):c.1298C>G (p.Ser433Cys) rs2140668383
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp) rs1566781633
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1314TCCCCC[1] (p.Pro444_Pro445del) rs980563049
NM_022489.4(INF2):c.1314TCCCCC[3] (p.Pro445_Leu446insProPro)
NM_022489.4(INF2):c.1325C>T (p.Pro442Leu)
NM_022489.4(INF2):c.1336dup (p.Leu446fs) rs1278804782
NM_022489.4(INF2):c.1337T>C (p.Leu446Pro)
NM_022489.4(INF2):c.134C>T (p.Pro45Leu)
NM_022489.4(INF2):c.1366A>G (p.Thr456Ala)
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del) rs1443005224
NM_022489.4(INF2):c.1379C>G (p.Pro460Arg)
NM_022489.4(INF2):c.137C>T (p.Ser46Phe) rs1889493279
NM_022489.4(INF2):c.1381C>T (p.Pro461Ser)
NM_022489.4(INF2):c.1382C>A (p.Pro461Gln)
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
NM_022489.4(INF2):c.1396_1446dup (p.Leu466_Gly482dup) rs1566781794
NM_022489.4(INF2):c.1406T>C (p.Met469Thr) rs1889849217
NM_022489.4(INF2):c.1411C>G (p.Pro471Ala)
NM_022489.4(INF2):c.1415del (p.Pro472fs) rs2140669082
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1435C>A (p.Pro479Thr)
NM_022489.4(INF2):c.1440_1441delinsTT (p.Pro481Ser)
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu) rs1438965620
NM_022489.4(INF2):c.1474C>T (p.Pro492Ser)
NM_022489.4(INF2):c.1493G>T (p.Gly498Val) rs2140669360
NM_022489.4(INF2):c.14A>T (p.Glu5Val)
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.4(INF2):c.1511C>A (p.Pro504Gln)
NM_022489.4(INF2):c.1517T>G (p.Leu506Arg) rs1160363735
NM_022489.4(INF2):c.1526G>A (p.Gly509Asp)
NM_022489.4(INF2):c.1528A>G (p.Met510Val)
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser) rs2140669651
NM_022489.4(INF2):c.1576T>A (p.Cys526Ser)
NM_022489.4(INF2):c.1579A>C (p.Ser527Arg)
NM_022489.4(INF2):c.1585C>A (p.Pro529Thr) rs1052608799
NM_022489.4(INF2):c.1587dup (p.Val530fs) rs748929807
NM_022489.4(INF2):c.1594G>A (p.Gly532Arg)
NM_022489.4(INF2):c.1599C>T (p.Gly533=) rs1889860666
NM_022489.4(INF2):c.1603G>C (p.Glu535Gln) rs2140669798
NM_022489.4(INF2):c.1604AGG[1] (p.Glu536del)
NM_022489.4(INF2):c.1618G>A (p.Ala540Thr)
NM_022489.4(INF2):c.1625T>C (p.Val542Ala) rs1467920811
NM_022489.4(INF2):c.1634G>T (p.Gly545Val)
NM_022489.4(INF2):c.1674C>A (p.Asn558Lys)
NM_022489.4(INF2):c.1710G>C (p.Gln570His) rs2140670180
NM_022489.4(INF2):c.1733G>A (p.Arg578His)
NM_022489.4(INF2):c.1735+5G>A
NM_022489.4(INF2):c.1736A>G (p.Glu579Gly) rs2140671973
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr) rs530285485
NM_022489.4(INF2):c.1780G>C (p.Ala594Pro)
NM_022489.4(INF2):c.1794_1801dup (p.Ser601fs)
NM_022489.4(INF2):c.17G>T (p.Gly6Val)
NM_022489.4(INF2):c.181G>C (p.Asp61His) rs1410857502
NM_022489.4(INF2):c.1824C>G (p.Phe608Leu)
NM_022489.4(INF2):c.1849A>G (p.Thr617Ala) rs2140672247
NM_022489.4(INF2):c.1852A>T (p.Met618Leu)
NM_022489.4(INF2):c.1859C>T (p.Ala620Val)
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
NM_022489.4(INF2):c.1870A>T (p.Arg624Trp)
NM_022489.4(INF2):c.1879C>A (p.Pro627Thr)
NM_022489.4(INF2):c.1888-8T>G rs889481678
NM_022489.4(INF2):c.188G>A (p.Gly63Asp) rs990960028
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del) rs1889495846
NM_022489.4(INF2):c.1892C>T (p.Thr631Ile) rs1595172697
NM_022489.4(INF2):c.1894T>C (p.Phe632Leu)
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
NM_022489.4(INF2):c.1902T>A (p.Asp634Glu)
NM_022489.4(INF2):c.1906A>C (p.Lys636Gln) rs1889898227
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg) rs761939643
NM_022489.4(INF2):c.1912A>T (p.Ser638Cys)
NM_022489.4(INF2):c.1913G>A (p.Ser638Asn)
NM_022489.4(INF2):c.1914C>G (p.Ser638Arg)
NM_022489.4(INF2):c.1921C>T (p.Leu641Phe)
NM_022489.4(INF2):c.1932C>G (p.Phe644Leu) rs966287674
NM_022489.4(INF2):c.1942T>G (p.Phe648Val)
NM_022489.4(INF2):c.1949+1G>A
NM_022489.4(INF2):c.1950-19G>A
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly) rs2140675983
NM_022489.4(INF2):c.1967C>G (p.Ala656Gly)
NM_022489.4(INF2):c.2008G>T (p.Glu670Ter)
NM_022489.4(INF2):c.200A>G (p.Gln67Arg)
NM_022489.4(INF2):c.2023C>G (p.Leu675Val)
NM_022489.4(INF2):c.2023C>T (p.Leu675Phe)
NM_022489.4(INF2):c.2050G>A (p.Glu684Lys)
NM_022489.4(INF2):c.2052+3A>G rs1382855956
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly) rs769120676
NM_022489.4(INF2):c.2093T>C (p.Leu698Pro) rs1889952154
NM_022489.4(INF2):c.2104G>A (p.Asp702Asn)
NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup) rs1889497296
NM_022489.4(INF2):c.2122C>A (p.Leu708Met)
NM_022489.4(INF2):c.2128G>A (p.Ala710Thr) rs373806518
NM_022489.4(INF2):c.2138+4A>G
NM_022489.4(INF2):c.2174A>C (p.Glu725Ala) rs1889975115
NM_022489.4(INF2):c.2197A>T (p.Met733Leu)
NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)
NM_022489.4(INF2):c.2206C>T (p.Pro736Ser)
NM_022489.4(INF2):c.220C>G (p.Leu74Val)
NM_022489.4(INF2):c.221T>G (p.Leu74Arg) rs1566777566
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg) rs1595174468
NM_022489.4(INF2):c.2238A>C (p.Glu746Asp)
NM_022489.4(INF2):c.2264C>G (p.Pro755Arg)
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del) rs1889499325
NM_022489.4(INF2):c.2288G>A (p.Arg763Lys)
NM_022489.4(INF2):c.2311-3del
NM_022489.4(INF2):c.233T>A (p.Leu78Gln) rs1889500121
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg) rs1890029024
NM_022489.4(INF2):c.2419-19T>A rs1890051019
NM_022489.4(INF2):c.2436C>G (p.His812Gln)
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala) rs377340315
NM_022489.4(INF2):c.251T>C (p.Leu84Pro) rs1889501966
NM_022489.4(INF2):c.2523C>A (p.Ser841Arg)
NM_022489.4(INF2):c.2524T>C (p.Ser842Pro)
NM_022489.4(INF2):c.2533A>C (p.Lys845Gln)
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn) rs1890101375
NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)
NM_022489.4(INF2):c.255G>A (p.Ser85=) rs369037445
NM_022489.4(INF2):c.2574G>A (p.Val858=) rs371768502
NM_022489.4(INF2):c.257G>T (p.Gly86Val) rs1566777637
NM_022489.4(INF2):c.2599G>C (p.Glu867Gln) rs777850657
NM_022489.4(INF2):c.2611-3_2766delinsA rs1890116449
NM_022489.4(INF2):c.261_262dup (p.Gly88fs)
NM_022489.4(INF2):c.2621C>T (p.Ser874Leu)
NM_022489.4(INF2):c.262G>A (p.Gly88Ser) rs766891612
NM_022489.4(INF2):c.262G>T (p.Gly88Cys) rs766891612
NM_022489.4(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.4(INF2):c.2664G>T (p.Gln888His)
NM_022489.4(INF2):c.2684A>G (p.Asp895Gly) rs1890119751
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe) rs1890119995
NM_022489.4(INF2):c.26G>C (p.Arg9Pro)
NM_022489.4(INF2):c.2709G>C (p.Gln903His) rs762803590
NM_022489.4(INF2):c.2714C>T (p.Ser905Phe)
NM_022489.4(INF2):c.271C>T (p.Arg91Cys) rs200247054
NM_022489.4(INF2):c.2726C>T (p.Thr909Met) rs201336550
NM_022489.4(INF2):c.272G>T (p.Arg91Leu)
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp) rs778308700
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs) rs1566785235
NM_022489.4(INF2):c.2768C>T (p.Ala923Val)
NM_022489.4(INF2):c.2775+6G>A rs2140693103
NM_022489.4(INF2):c.2776-6G>A
NM_022489.4(INF2):c.2778G>C (p.Glu926Asp)
NM_022489.4(INF2):c.2789G>T (p.Arg930Leu)
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys) rs1595178511
NM_022489.4(INF2):c.281A>G (p.Asp94Gly) rs1889506126
NM_022489.4(INF2):c.283G>A (p.Ala95Thr)
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr) rs2140695225
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly) rs912951002
NM_022489.4(INF2):c.2855C>T (p.Pro952Leu)
NM_022489.4(INF2):c.2858G>C (p.Arg953Pro)
NM_022489.4(INF2):c.2868C>G (p.Asp956Glu) rs748088770
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.2877T>C (p.Pro959=) rs1890143462
NM_022489.4(INF2):c.2878+19_2878+48dup
NM_022489.4(INF2):c.2900AGG[2] (p.Glu969del)
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys) rs1890151516
NM_022489.4(INF2):c.2906A>T (p.Glu969Val)
NM_022489.4(INF2):c.290T>G (p.Leu97Arg)
NM_022489.4(INF2):c.2938A>G (p.Ile980Val)
NM_022489.4(INF2):c.2942G>C (p.Arg981Thr)
NM_022489.4(INF2):c.2944A>G (p.Lys982Glu)
NM_022489.4(INF2):c.2959C>T (p.Arg987Trp) rs777407891
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.4(INF2):c.2980G>A (p.Gly994Arg)
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.4(INF2):c.2994_2996del (p.Gly999del)
NM_022489.4(INF2):c.2996dup (p.Ser1000fs) rs1566785725
NM_022489.4(INF2):c.3001A>G (p.Lys1001Glu)
NM_022489.4(INF2):c.304G>C (p.Val102Leu)
NM_022489.4(INF2):c.3059C>A (p.Ala1020Glu) rs368372551
NM_022489.4(INF2):c.3080C>G (p.Thr1027Arg)
NM_022489.4(INF2):c.3091G>C (p.Ala1031Pro) rs1050761365
NM_022489.4(INF2):c.3103G>C (p.Gly1035Arg) rs368995122
NM_022489.4(INF2):c.3119C>A (p.Thr1040Lys)
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly) rs770095888
NM_022489.4(INF2):c.3145C>A (p.Leu1049Ile)
NM_022489.4(INF2):c.3153C>A (p.Asp1051Glu) rs117457867
NM_022489.4(INF2):c.3174G>C (p.Gln1058His)
NM_022489.4(INF2):c.3179C>T (p.Thr1060Ile)
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser) rs1209329545
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp) rs1890195225
NM_022489.4(INF2):c.320_322del (p.Ala107del) rs1889509458
NM_022489.4(INF2):c.322del (p.Val108fs) rs2140639383
NM_022489.4(INF2):c.3241G>C (p.Asp1081His) rs571986941
NM_022489.4(INF2):c.325A>T (p.Met109Leu) rs1889510098
NM_022489.4(INF2):c.3271C>T (p.Pro1091Ser)
NM_022489.4(INF2):c.3325C>T (p.Gln1109Ter)
NM_022489.4(INF2):c.3329C>A (p.Ala1110Asp) rs2140700719
NM_022489.4(INF2):c.332C>T (p.Ser111Leu)
NM_022489.4(INF2):c.3340C>G (p.Leu1114Val)
NM_022489.4(INF2):c.3356A>G (p.Asn1119Ser)
NM_022489.4(INF2):c.3361C>T (p.Pro1121Ser) rs1248997686
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu) rs1422015907
NM_022489.4(INF2):c.3374G>C (p.Gly1125Ala)
NM_022489.4(INF2):c.3384G>C (p.Arg1128Ser)
NM_022489.4(INF2):c.338A>G (p.Gln113Arg) rs1889511010
NM_022489.4(INF2):c.338A>T (p.Gln113Leu)
NM_022489.4(INF2):c.3414G>T (p.Leu1138=)
NM_022489.4(INF2):c.3439A>C (p.Ser1147Arg)
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly) rs1890205376
NM_022489.4(INF2):c.344T>G (p.Ile115Ser) rs2140639483
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala) rs1166494154
NM_022489.4(INF2):c.346G>A (p.Glu116Lys)
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly) rs1890207111
NM_022489.4(INF2):c.34G>A (p.Ala12Thr) rs201814557
NM_022489.4(INF2):c.3511G>T (p.Asp1171Tyr)
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2]) rs748373029
NM_022489.4(INF2):c.3538G>T (p.Ala1180Ser) rs1890210294
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys) rs201715539
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln) rs1064796974
NM_022489.4(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.4(INF2):c.3604T>C (p.Ser1202Pro) rs1890213193
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp) rs956685612
NM_022489.4(INF2):c.3623C>T (p.Pro1208Leu)
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs) rs762985148
NM_022489.4(INF2):c.364C>G (p.Gln122Glu) rs1428719320
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln) rs754128326
NM_022489.4(INF2):c.3665G>A (p.Arg1222Lys)
NM_022489.4(INF2):c.3694+5C>T rs1890217788
NM_022489.4(INF2):c.3698T>A (p.Val1233Asp)
NM_022489.4(INF2):c.369del (p.Tyr124fs)
NM_022489.4(INF2):c.3700C>T (p.Pro1234Ser) rs2140703863
NM_022489.4(INF2):c.3709del (p.Ser1237fs)
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del) rs1236644699
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu) rs775075672
NM_022489.4(INF2):c.3715G>A (p.Asp1239Asn)
NM_022489.4(INF2):c.3717T>A (p.Asp1239Glu)
NM_022489.4(INF2):c.3725_3728del (p.Thr1242fs) rs1349764218
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) rs1566787039
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu) rs1323987101
NM_022489.4(INF2):c.3731A>G (p.Lys1244Arg)
NM_022489.4(INF2):c.373G>A (p.Val125Met) rs762621935
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu) rs1890248105
NM_022489.4(INF2):c.3750A>C (p.Ter1250Tyr)
NM_022489.4(INF2):c.391+6C>A
NM_022489.4(INF2):c.427G>A (p.Val143Met) rs1237835000
NM_022489.4(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.4(INF2):c.446C>T (p.Ala149Val)
NM_022489.4(INF2):c.456C>G (p.Ile152Met)
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
NM_022489.4(INF2):c.475G>T (p.Val159Leu) rs781188543
NM_022489.4(INF2):c.490G>A (p.Ala164Thr)
NM_022489.4(INF2):c.507+3G>T
NM_022489.4(INF2):c.507+4G>T
NM_022489.4(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.4(INF2):c.565G>A (p.Asp189Asn) rs753287786
NM_022489.4(INF2):c.583G>A (p.Val195Ile) rs1595166165
NM_022489.4(INF2):c.583G>T (p.Val195Phe) rs1595166165
NM_022489.4(INF2):c.595A>C (p.Ser199Arg)
NM_022489.4(INF2):c.619G>T (p.Gly207Cys)
NM_022489.4(INF2):c.622C>G (p.Pro208Ala)
NM_022489.4(INF2):c.623C>A (p.Pro208His)
NM_022489.4(INF2):c.625G>A (p.Glu209Lys) rs1012899025
NM_022489.4(INF2):c.637G>A (p.Ala213Thr)
NM_022489.4(INF2):c.637G>C (p.Ala213Pro) rs778267218
NM_022489.4(INF2):c.638C>A (p.Ala213Glu)
NM_022489.4(INF2):c.644C>T (p.Thr215Ile)
NM_022489.4(INF2):c.664A>G (p.Ile222Val) rs1889626323
NM_022489.4(INF2):c.664_666dup (p.Ile222dup) rs1889626434
NM_022489.4(INF2):c.667+5G>A rs2140648957
NM_022489.4(INF2):c.67T>G (p.Ser23Ala) rs746964937
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.731A>T (p.Gln244Leu)
NM_022489.4(INF2):c.740C>T (p.Ala247Val) rs1211857426
NM_022489.4(INF2):c.743T>C (p.Phe248Ser)
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del) rs1889767212
NM_022489.4(INF2):c.760G>A (p.Glu254Lys) rs1595169407
NM_022489.4(INF2):c.772G>A (p.Glu258Lys)
NM_022489.4(INF2):c.77C>T (p.Thr26Met) rs1479164061
NM_022489.4(INF2):c.781C>T (p.Arg261Ter)
NM_022489.4(INF2):c.798C>A (p.Val266=) rs375005967
NM_022489.4(INF2):c.799G>C (p.Asp267His)
NM_022489.4(INF2):c.804G>T (p.Met268Ile)
NM_022489.4(INF2):c.83C>T (p.Ala28Val)
NM_022489.4(INF2):c.849C>T (p.Ser283=)
NM_022489.4(INF2):c.854C>T (p.Ser285Phe) rs2140665449
NM_022489.4(INF2):c.866C>T (p.Ala289Val)
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
NM_022489.4(INF2):c.923G>A (p.Ser308Asn)
NM_022489.4(INF2):c.940G>A (p.Ala314Thr) rs2140665830
NM_022489.4(INF2):c.949A>G (p.Ser317Gly) rs762702624
NM_022489.4(INF2):c.967G>A (p.Val323Met) rs761806103
NM_022489.4(INF2):c.96C>A (p.Ser32Arg)
NM_022489.4(INF2):c.985+5G>A
NM_022489.4(INF2):c.985+5G>C
NM_022489.4(INF2):c.986C>A (p.Ala329Asp) rs2140666754
NM_022489.4(INF2):c.994T>G (p.Cys332Gly) rs1399811407
NM_022489.4(INF2):c.996C>T (p.Cys332=) rs2140666799
NM_022489.4(INF2):c.997A>G (p.Thr333Ala) rs760664321

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