ClinVar Miner

List of variants studied for Bardet-Biedl syndrome; McKusick-Kaufman syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 436
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14506
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14499
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01109
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00363
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_170784.3(MKKS):c.699C>G (p.Ile233Met) rs770801103 0.00068
NM_170784.3(MKKS):c.1161+3A>G rs192968747 0.00036
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly) rs199553497 0.00020
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) rs149626732 0.00019
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812 0.00016
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) rs372944937 0.00015
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly) rs747959135 0.00012
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00012
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp) rs754207459 0.00011
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr) rs375952682 0.00011
NM_170784.3(MKKS):c.1167G>A (p.Thr389=) rs367980245 0.00010
NM_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_170784.3(MKKS):c.1246C>A (p.His416Asn) rs148800011 0.00008
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe) rs374485160 0.00008
NM_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00007
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.1369G>A (p.Val457Ile) rs376038160 0.00006
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys) rs141181516 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn) rs558813240 0.00005
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu) rs139509933 0.00005
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys) rs755050269 0.00005
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 0.00005
NM_170784.3(MKKS):c.801T>G (p.Ser267=) rs766373585 0.00005
NM_170784.3(MKKS):c.859C>A (p.His287Asn) rs140989772 0.00005
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00005
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val) rs745476713 0.00004
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn) rs776107451 0.00004
NM_170784.3(MKKS):c.202T>G (p.Leu68Val) rs200836375 0.00004
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr) rs368277209 0.00004
NM_170784.3(MKKS):c.792T>C (p.Tyr264=) rs74315397 0.00004
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val) rs745728640 0.00003
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00003
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn) rs745313480 0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His) rs138111422 0.00003
NM_170784.3(MKKS):c.749G>A (p.Gly250Glu) rs972466774 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_170784.3(MKKS):c.923A>G (p.His308Arg) rs967873180 0.00003
NM_170784.3(MKKS):c.1085A>G (p.His362Arg) rs373858682 0.00002
NM_170784.3(MKKS):c.1169G>A (p.Cys390Tyr) rs1361214616 0.00002
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn) rs779416496 0.00002
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu) rs772537800 0.00002
NM_170784.3(MKKS):c.1377C>T (p.Gly459=) rs1477590546 0.00002
NM_170784.3(MKKS):c.147C>T (p.Gly49=) rs769096000 0.00002
NM_170784.3(MKKS):c.1578T>G (p.Leu526=) rs756442707 0.00002
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00002
NM_170784.3(MKKS):c.282C>T (p.Phe94=) rs769886552 0.00002
NM_170784.3(MKKS):c.432T>C (p.Phe144=) rs1183097312 0.00002
NM_170784.3(MKKS):c.554C>T (p.Thr185Ile) rs1321192032 0.00002
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr) rs752587935 0.00002
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala) rs144344402 0.00002
NM_170784.3(MKKS):c.825G>T (p.Gln275His) rs1400647753 0.00002
NM_170784.3(MKKS):c.871G>A (p.Val291Ile) rs910468710 0.00002
NM_170784.3(MKKS):c.1006C>G (p.Leu336Val) rs759986531 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) rs1401483166 0.00001
NM_170784.3(MKKS):c.1059A>G (p.Ala353=) rs768799434 0.00001
NM_170784.3(MKKS):c.105A>T (p.Ser35=) rs777614550 0.00001
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr) rs1414454066 0.00001
NM_170784.3(MKKS):c.1106C>T (p.Thr369Ile) rs2064859757 0.00001
NM_170784.3(MKKS):c.111T>C (p.Tyr37=) rs200149064 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1161+17G>C rs1279279012 0.00001
NM_170784.3(MKKS):c.1162-15T>G rs753555905 0.00001
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met) rs201183584 0.00001
NM_170784.3(MKKS):c.1176G>A (p.Thr392=) rs1441106610 0.00001
NM_170784.3(MKKS):c.1191G>A (p.Leu397=) rs1202884537 0.00001
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg) rs762894786 0.00001
NM_170784.3(MKKS):c.1226G>T (p.Gly409Val) rs2064852512 0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys) rs748071139 0.00001
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val) rs778950712 0.00001
NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys) rs754555322 0.00001
NM_170784.3(MKKS):c.1269C>T (p.His423=) rs144313303 0.00001
NM_170784.3(MKKS):c.1272+11T>C rs146873060 0.00001
NM_170784.3(MKKS):c.1272+17T>G rs1433995589 0.00001
NM_170784.3(MKKS):c.1272+18C>T rs757800590 0.00001
NM_170784.3(MKKS):c.1272+2T>C rs2064851971 0.00001
NM_170784.3(MKKS):c.1273-8C>T rs1456383318 0.00001
NM_170784.3(MKKS):c.1273-9A>G rs1239375783 0.00001
NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile) rs951838467 0.00001
NM_170784.3(MKKS):c.1278C>T (p.His426=) rs145781686 0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser) rs776235071 0.00001
NM_170784.3(MKKS):c.1281C>T (p.Asn427=) rs1269436272 0.00001
NM_170784.3(MKKS):c.1291A>G (p.Ser431Gly) rs993196591 0.00001
NM_170784.3(MKKS):c.130A>C (p.Lys44Gln) rs2064910872 0.00001
NM_170784.3(MKKS):c.1332A>G (p.Gln444=) rs759624565 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.1368T>C (p.Ser456=) rs2064837381 0.00001
NM_170784.3(MKKS):c.1410T>C (p.Thr470=) rs770568142 0.00001
NM_170784.3(MKKS):c.1422T>C (p.Tyr474=) rs777980292 0.00001
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter) rs1398715312 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu) rs939398496 0.00001
NM_170784.3(MKKS):c.146G>T (p.Gly49Val) rs528833454 0.00001
NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys) rs749139446 0.00001
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter) rs777446581 0.00001
NM_170784.3(MKKS):c.1550G>A (p.Arg517His) rs200334161 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.1599A>T (p.Ser533=) rs767432410 0.00001
NM_170784.3(MKKS):c.159C>T (p.Tyr53=) rs775547196 0.00001
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp) rs1309710762 0.00001
NM_170784.3(MKKS):c.1608C>T (p.Asn536=) rs2514486476 0.00001
NM_170784.3(MKKS):c.1611G>A (p.Leu537=) rs1400368715 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.1704T>C (p.Asp568=) rs745902918 0.00001
NM_170784.3(MKKS):c.192C>T (p.Leu64=) rs779005653 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00001
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter) rs762258242 0.00001
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly) rs751858146 0.00001
NM_170784.3(MKKS):c.273T>C (p.Cys91=) rs1358889476 0.00001
NM_170784.3(MKKS):c.297C>T (p.Cys99=) rs748395304 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.307A>G (p.Ile103Val) rs771002171 0.00001
NM_170784.3(MKKS):c.30A>T (p.Ser10=) rs752207403 0.00001
NM_170784.3(MKKS):c.31T>A (p.Leu11Met) rs1443376346 0.00001
NM_170784.3(MKKS):c.336A>G (p.Thr112=) rs1479566281 0.00001
NM_170784.3(MKKS):c.364C>T (p.His122Tyr) rs148221053 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.411T>A (p.Gly137=) rs758948910 0.00001
NM_170784.3(MKKS):c.429C>T (p.Asp143=) rs760963161 0.00001
NM_170784.3(MKKS):c.462G>A (p.Val154=) rs1487665337 0.00001
NM_170784.3(MKKS):c.469A>G (p.Ile157Val) rs746633460 0.00001
NM_170784.3(MKKS):c.504A>G (p.Arg168=) rs377619965 0.00001
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala) rs775145290 0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg) rs1303349629 0.00001
NM_170784.3(MKKS):c.513A>G (p.Thr171=) rs376269722 0.00001
NM_170784.3(MKKS):c.525T>C (p.Ser175=) rs745771800 0.00001
NM_170784.3(MKKS):c.541G>A (p.Ala181Thr) rs1215659134 0.00001
NM_170784.3(MKKS):c.547T>C (p.Leu183=) rs1380420932 0.00001
NM_170784.3(MKKS):c.591A>G (p.Gly197=) rs1475734665 0.00001
NM_170784.3(MKKS):c.621A>G (p.Gln207=) rs561789372 0.00001
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr) rs201243884 0.00001
NM_170784.3(MKKS):c.638C>G (p.Thr213Ser) rs780570415 0.00001
NM_170784.3(MKKS):c.642A>G (p.Val214=) rs750470997 0.00001
NM_170784.3(MKKS):c.648T>A (p.Pro216=) rs2064902182 0.00001
NM_170784.3(MKKS):c.64G>A (p.Val22Ile) rs1250763330 0.00001
NM_170784.3(MKKS):c.657C>A (p.Leu219=) rs377719019 0.00001
NM_170784.3(MKKS):c.65T>A (p.Val22Asp) rs1263047863 0.00001
NM_170784.3(MKKS):c.663A>G (p.Glu221=) rs1432169288 0.00001
NM_170784.3(MKKS):c.66C>G (p.Val22=) rs1356562464 0.00001
NM_170784.3(MKKS):c.678A>G (p.Gln226=) rs764910901 0.00001
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala) rs760185677 0.00001
NM_170784.3(MKKS):c.734G>A (p.Cys245Tyr) rs771767882 0.00001
NM_170784.3(MKKS):c.747C>T (p.Ser249=) rs187543885 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.780G>A (p.Val260=) rs781401127 0.00001
NM_170784.3(MKKS):c.783G>C (p.Val261=) rs751761252 0.00001
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg) rs375902906 0.00001
NM_170784.3(MKKS):c.81T>C (p.Ser27=) rs1302777267 0.00001
NM_170784.3(MKKS):c.834C>G (p.Asn278Lys) rs575896442 0.00001
NM_170784.3(MKKS):c.834C>T (p.Asn278=) rs575896442 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.861C>T (p.His287=) rs1329682768 0.00001
NM_170784.3(MKKS):c.864A>C (p.Val288=) rs202113646 0.00001
NM_170784.3(MKKS):c.889A>G (p.Ile297Val) rs1470886445 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.8G>A (p.Arg3His) rs770619894 0.00001
NM_170784.3(MKKS):c.937A>G (p.Ile313Val) rs375066177 0.00001
NM_170784.3(MKKS):c.945A>G (p.Arg315=) rs763720494 0.00001
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr) rs370219365 0.00001
NM_170784.3(MKKS):c.985+7A>G rs895588345 0.00001
NM_170784.3(MKKS):c.986-10T>G rs368654512 0.00001
NM_170784.3(MKKS):c.987A>G (p.Gly329=) rs2064860832 0.00001
NC_000020.10:g.(?_10256140)_(10654178_?)dup
NC_000020.10:g.(?_10385895)_(10394162_?)del
NC_000020.11:g.(?_10405227)_(10413534_?)del
NM_170784.3(MKKS):c.1008A>G (p.Leu336=) rs973676101
NM_170784.3(MKKS):c.1011C>T (p.Gly337=) rs777134674
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter) rs2122226112
NM_170784.3(MKKS):c.1015A>C (p.Ile339Leu)
NM_170784.3(MKKS):c.1032T>C (p.Tyr344=) rs139903158
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn) rs2514490673
NM_170784.3(MKKS):c.1044A>G (p.Lys348=) rs367664766
NM_170784.3(MKKS):c.1047T>C (p.Asp349=) rs1157186319
NM_170784.3(MKKS):c.1073A>G (p.Lys358Arg) rs1455491260
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro) rs2064859899
NM_170784.3(MKKS):c.1095T>C (p.Pro365=) rs2514490486
NM_170784.3(MKKS):c.1104A>G (p.Ala368=) rs752192391
NM_170784.3(MKKS):c.1110C>T (p.Ile370=) rs1373653954
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser) rs144892179
NM_170784.3(MKKS):c.1113C>T (p.Cys371=)
NM_170784.3(MKKS):c.1118del (p.Leu373fs) rs2514490367
NM_170784.3(MKKS):c.1125C>T (p.Leu375=) rs2514490345
NM_170784.3(MKKS):c.1148G>A (p.Trp383Ter) rs2514490293
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter) rs2514490284
NM_170784.3(MKKS):c.1161+13_1161+19dup rs756277808
NM_170784.3(MKKS):c.1161+16del rs1178282246
NM_170784.3(MKKS):c.1162-10T>G rs2514489177
NM_170784.3(MKKS):c.1162-11T>C rs978893420
NM_170784.3(MKKS):c.1162-12G>T
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.1162-5C>G rs1167196726
NM_170784.3(MKKS):c.1162-7T>C rs2514489176
NM_170784.3(MKKS):c.1164C>T (p.Leu388=) rs1302683154
NM_170784.3(MKKS):c.1167G>C (p.Thr389=) rs367980245
NM_170784.3(MKKS):c.1167G>T (p.Thr389=) rs367980245
NM_170784.3(MKKS):c.1170T>C (p.Cys390=) rs2514489139
NM_170784.3(MKKS):c.1181del (p.Leu394fs) rs2122223967
NM_170784.3(MKKS):c.1183C>T (p.His395Tyr) rs1253641594
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val) rs2514489100
NM_170784.3(MKKS):c.1190del (p.Leu397fs) rs2514489097
NM_170784.3(MKKS):c.1196T>G (p.Leu399Ter)
NM_170784.3(MKKS):c.1200A>G (p.Thr400=)
NM_170784.3(MKKS):c.1203C>T (p.Leu401=) rs1298299884
NM_170784.3(MKKS):c.120A>C (p.Ser40=) rs2514497934
NM_170784.3(MKKS):c.1222T>C (p.Leu408=) rs2514489036
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs) rs1421664374
NM_170784.3(MKKS):c.123T>A (p.Gly41=) rs1030259215
NM_170784.3(MKKS):c.1257A>G (p.Ala419=) rs2514488983
NM_170784.3(MKKS):c.1260T>C (p.Tyr420=) rs2514488977
NM_170784.3(MKKS):c.1266A>G (p.Arg422=) rs1424059028
NM_170784.3(MKKS):c.1267C>T (p.His423Tyr) rs2122223791
NM_170784.3(MKKS):c.1272+14T>A rs2064851860
NM_170784.3(MKKS):c.1272+14T>C rs2064851860
NM_170784.3(MKKS):c.1272+16C>G rs2064851847
NM_170784.3(MKKS):c.1272+1G>A rs755716827
NM_170784.3(MKKS):c.1272+20T>C rs2064851790
NM_170784.3(MKKS):c.1272+6T>C rs2064851919
NM_170784.3(MKKS):c.1272+7A>G rs1209169319
NM_170784.3(MKKS):c.1272+8A>G rs2514488926
NM_170784.3(MKKS):c.1272+9G>A rs2514488922
NM_170784.3(MKKS):c.1273-5T>C
NM_170784.3(MKKS):c.128T>G (p.Leu43Arg) rs1364157544
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs) rs2122220131
NM_170784.3(MKKS):c.1299C>G (p.Leu433=) rs1230480736
NM_170784.3(MKKS):c.1299C>T (p.Leu433=) rs1230480736
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) rs746696111
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val) rs746696111
NM_170784.3(MKKS):c.1311A>G (p.Glu437=) rs764654199
NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly) rs2514487066
NM_170784.3(MKKS):c.1333T>A (p.Leu445Ile) rs754132134
NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser) rs1057516054
NM_170784.3(MKKS):c.134del (p.Gln45fs)
NM_170784.3(MKKS):c.1351dup (p.Cys451fs) rs2514487000
NM_170784.3(MKKS):c.135G>A (p.Gln45=) rs976383350
NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs) rs2122220042
NM_170784.3(MKKS):c.1368del (p.Val457fs)
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe) rs1600843195
NM_170784.3(MKKS):c.1380T>C (p.Ser460=) rs2514486932
NM_170784.3(MKKS):c.13G>T (p.Glu5Ter)
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val) rs2514486906
NM_170784.3(MKKS):c.1404T>C (p.Ile468=) rs2514486903
NM_170784.3(MKKS):c.1410T>G (p.Thr470=) rs770568142
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer) rs1171514864
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg) rs1448828418
NM_170784.3(MKKS):c.1437A>G (p.Ser479=) rs373073560
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile) rs2064836436
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr) rs2514486827
NM_170784.3(MKKS):c.1464T>C (p.Ala488=) rs2122219775
NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys) rs2122219766
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn) rs142327258
NM_170784.3(MKKS):c.1474G>C (p.Asp492His) rs142327258
NM_170784.3(MKKS):c.1500A>G (p.Gly500=)
NM_170784.3(MKKS):c.1503A>G (p.Leu501=)
NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile) rs772349046
NM_170784.3(MKKS):c.1545C>T (p.Ser515=) rs2064835262
NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys) rs2514486646
NM_170784.3(MKKS):c.1569A>G (p.Gln523=) rs2514486586
NM_170784.3(MKKS):c.1572C>T (p.Ser524=) rs2122219499
NM_170784.3(MKKS):c.1573dup (p.Cys525fs) rs2122219488
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile) rs1239900206
NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu) rs2122219454
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del) rs2122219438
NM_170784.3(MKKS):c.1583A>G (p.His528Arg) rs1288210757
NM_170784.3(MKKS):c.1589C>T (p.Ala530Val) rs2122219422
NM_170784.3(MKKS):c.1591G>C (p.Val531Leu) rs750705949
NM_170784.3(MKKS):c.1602C>T (p.Ala534=) rs1408681070
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn) rs2514486487
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg) rs889037739
NM_170784.3(MKKS):c.1605C>T (p.Ser535=) rs889037739
NM_170784.3(MKKS):c.162G>T (p.Val54=) rs2514497803
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly) rs149095209
NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro) rs2514486394
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser) rs1430948061
NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr) rs532487848
NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg) rs369472120
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) rs554429487
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val) rs2064833443
NM_170784.3(MKKS):c.1689A>G (p.Ser563=) rs147688404
NM_170784.3(MKKS):c.1689A>T (p.Ser563=) rs147688404
NM_170784.3(MKKS):c.1692T>C (p.Tyr564=) rs1284336032
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) rs1600849412
NM_170784.3(MKKS):c.174A>C (p.Ser58=) rs1217786193
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.175_176del (p.Gln59fs) rs2122236167
NM_170784.3(MKKS):c.180C>T (p.Ser60=) rs2064909876
NM_170784.3(MKKS):c.189G>A (p.Leu63=) rs1325477606
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro) rs2514497683
NM_170784.3(MKKS):c.198C>T (p.His66=) rs2514497651
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.213T>C (p.His71=) rs1176253856
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter) rs2514497550
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer) rs2514497554
NM_170784.3(MKKS):c.251A>C (p.His84Pro) rs2064908864
NM_170784.3(MKKS):c.255G>T (p.Val85=) rs1656699312
NM_170784.3(MKKS):c.27A>C (p.Pro9=) rs2514498366
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.288T>C (p.Ala96=) rs2122235838
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.2T>A (p.Met1Lys) rs2514498517
NM_170784.3(MKKS):c.2T>G (p.Met1Arg) rs2514498517
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser) rs776936558
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.303C>T (p.Asn101=) rs1308654063
NM_170784.3(MKKS):c.30A>G (p.Ser10=) rs752207403
NM_170784.3(MKKS):c.318T>G (p.Val106=) rs778846194
NM_170784.3(MKKS):c.327A>G (p.Leu109=) rs2514497173
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser) rs749216339
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg) rs779747206
NM_170784.3(MKKS):c.33G>A (p.Leu11=) rs2064912834
NM_170784.3(MKKS):c.357A>G (p.Leu119=) rs2514497076
NM_170784.3(MKKS):c.36dup (p.Lys13Ter) rs2514498304
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer) rs2514497043
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs) rs2122235619
NM_170784.3(MKKS):c.390T>C (p.Tyr130=) rs1825314208
NM_170784.3(MKKS):c.393C>G (p.Leu131=) rs751982863
NM_170784.3(MKKS):c.393C>T (p.Leu131=) rs751982863
NM_170784.3(MKKS):c.405C>T (p.Thr135=) rs2514496917
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser) rs1222401134
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys) rs2064912754
NM_170784.3(MKKS):c.411T>C (p.Gly137=) rs758948910
NM_170784.3(MKKS):c.415C>A (p.Arg139=) rs142394051
NM_170784.3(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_170784.3(MKKS):c.430T>C (p.Phe144Leu) rs768539582
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
NM_170784.3(MKKS):c.432dup (p.Ser145Ter) rs751923973
NM_170784.3(MKKS):c.435T>C (p.Ser145=) rs1568666519
NM_170784.3(MKKS):c.456_459del (p.Cys152fs) rs2064905664
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu) rs2514498254
NM_170784.3(MKKS):c.47del (p.Pro16fs) rs1224308508
NM_170784.3(MKKS):c.498C>T (p.Leu166=) rs767797613
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.522C>G (p.Val174=) rs2514496580
NM_170784.3(MKKS):c.529T>C (p.Leu177=) rs1203412687
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile) rs1439636916
NM_170784.3(MKKS):c.540A>G (p.Arg180=) rs1294260523
NM_170784.3(MKKS):c.561A>C (p.Pro187=) rs2514496489
NM_170784.3(MKKS):c.561A>G (p.Pro187=)
NM_170784.3(MKKS):c.570T>C (p.Ala190=) rs1191520552
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp) rs1241449462
NM_170784.3(MKKS):c.582C>A (p.Ile194=) rs2064903385
NM_170784.3(MKKS):c.594G>A (p.Lys198=) rs2514496408
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr) rs1191155721
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser) rs2514496373
NM_170784.3(MKKS):c.628A>G (p.Ile210Val) rs779130798
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.657C>T (p.Leu219=) rs377719019
NM_170784.3(MKKS):c.66C>A (p.Val22=) rs1356562464
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu) rs2122234652
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) rs2122234652
NM_170784.3(MKKS):c.687G>A (p.Arg229=) rs1387429421
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln) rs2122234625
NM_170784.3(MKKS):c.690A>G (p.Leu230=) rs2514496146
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser) rs748670841
NM_170784.3(MKKS):c.6T>C (p.Ser2=) rs2514498506
NM_170784.3(MKKS):c.708A>G (p.Ser236=) rs2514496089
NM_170784.3(MKKS):c.715C>T (p.Leu239Phe) rs2064901215
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_170784.3(MKKS):c.727C>T (p.Leu243Phe) rs2064900976
NM_170784.3(MKKS):c.729C>G (p.Leu243=) rs919233238
NM_170784.3(MKKS):c.729C>T (p.Leu243=) rs919233238
NM_170784.3(MKKS):c.732T>C (p.Phe244=) rs1335020103
NM_170784.3(MKKS):c.732_733del (p.Phe244fs) rs2514496005
NM_170784.3(MKKS):c.738A>G (p.Thr246=) rs2514495982
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe) rs2122234451
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe) rs2514495958
NM_170784.3(MKKS):c.751G>C (p.Asp251His) rs2064900610
NM_170784.3(MKKS):c.759T>G (p.Ser253=)
NM_170784.3(MKKS):c.763dup (p.Thr255fs) rs2122234387
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile) rs2064900423
NM_170784.3(MKKS):c.765T>C (p.Thr255=) rs2514495892
NM_170784.3(MKKS):c.76C>G (p.Leu26Val) rs774340585
NM_170784.3(MKKS):c.783G>A (p.Val261=) rs751761252
NM_170784.3(MKKS):c.783G>T (p.Val261=) rs751761252
NM_170784.3(MKKS):c.787A>T (p.Ser263Cys) rs764332400
NM_170784.3(MKKS):c.796G>T (p.Val266Phe) rs2064899855
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn) rs2064899452
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp) rs578252932
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr) rs1479132972
NM_170784.3(MKKS):c.843G>A (p.Arg281=) rs1460870072
NM_170784.3(MKKS):c.84C>T (p.Val28=)
NM_170784.3(MKKS):c.858C>T (p.Asp286=) rs2514495611
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg) rs2514495538
NM_170784.3(MKKS):c.882A>G (p.Gln294=)
NM_170784.3(MKKS):c.885dup (p.Val296fs) rs2514495504
NM_170784.3(MKKS):c.889dup (p.Ile297fs) rs2122233990
NM_170784.3(MKKS):c.891A>G (p.Ile297Met) rs2064898329
NM_170784.3(MKKS):c.897A>G (p.Pro299=) rs183175503
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro) rs770619894
NM_170784.3(MKKS):c.918T>C (p.Asn306=)
NM_170784.3(MKKS):c.922C>A (p.His308Asn) rs1600848359
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs) rs1201949741
NM_170784.3(MKKS):c.94A>G (p.Ile32Val) rs578110162
NM_170784.3(MKKS):c.950_960del (p.Gly317fs) rs746888009
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser) rs2514495377
NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla) rs2514495370
NM_170784.3(MKKS):c.958_959del (p.Leu320fs) rs770908659
NM_170784.3(MKKS):c.966del (p.Glu322fs) rs2064897275
NM_170784.3(MKKS):c.969C>G (p.Pro323=) rs762646572
NM_170784.3(MKKS):c.972G>T (p.Leu324=) rs2514495308
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer) rs2122236468
NM_170784.3(MKKS):c.985+13C>G rs2514495244
NM_170784.3(MKKS):c.985+13_985+14del rs2122233659
NM_170784.3(MKKS):c.985+20T>C rs1264877568
NM_170784.3(MKKS):c.985+9C>T rs2514495254
NM_170784.3(MKKS):c.986-10del rs2064860969
NM_170784.3(MKKS):c.986-13C>T rs2514490877
NM_170784.3(MKKS):c.986-19T>C rs2514490892
NM_170784.3(MKKS):c.986-4dup rs1226208575
NM_170784.3(MKKS):c.986-9A>G rs2514490859
NM_170784.3(MKKS):c.993G>A (p.Gln331=) rs1471751692
NM_170784.3(MKKS):c.9T>G (p.Arg3=) rs2514498488

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