ClinVar Miner

List of variants studied for Bardet-Biedl syndrome; McKusick-Kaufman syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 415
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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.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14080
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
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 0.00359
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_170784.3(MKKS):c.699C>G (p.Ile233Met) rs770801103 0.00070
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 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.250C>T (p.His84Tyr) rs281797258 0.00025
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) rs149626732 0.00021
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly) rs199553497 0.00020
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn) rs558813240 0.00016
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu) rs141201812 0.00016
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) rs372944937 0.00014
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr) rs375952682 0.00012
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly) rs747959135 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.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 0.00008
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr) rs201243884 0.00008
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.35G>A (p.Cys12Tyr) rs368277209 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val) rs778950712 0.00005
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu) rs139509933 0.00005
NM_170784.3(MKKS):c.874C>T (p.Leu292=) rs758645426 0.00005
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.463C>T (p.Arg155Cys) rs755050269 0.00004
NM_170784.3(MKKS):c.792T>C (p.Tyr264=) rs74315397 0.00004
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 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.1265G>A (p.Arg422Lys) rs754555322 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.862G>A (p.Val288Ile) rs113032343 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.282C>T (p.Phe94=) rs769886552 0.00002
NM_170784.3(MKKS):c.297C>T (p.Cys99=) rs748395304 0.00002
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn) rs745313480 0.00002
NM_170784.3(MKKS):c.429C>T (p.Asp143=) rs760963161 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.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.1075C>T (p.His359Tyr) rs1414454066 0.00001
NM_170784.3(MKKS):c.1104A>G (p.Ala368=) rs752192391 0.00001
NM_170784.3(MKKS):c.1106C>T (p.Thr369Ile) rs2064859757 0.00001
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe) rs1029793006 0.00001
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met) rs201183584 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.1269C>T (p.His423=) rs144313303 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.1274C>T (p.Thr425Ile) rs951838467 0.00001
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser) rs776235071 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.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.1422T>C (p.Tyr474=) rs777980292 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 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.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.1578T>G (p.Leu526=) rs756442707 0.00001
NM_170784.3(MKKS):c.1599A>T (p.Ser533=) rs767432410 0.00001
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp) rs1309710762 0.00001
NM_170784.3(MKKS):c.1645C>T (p.Leu549=) rs1010755325 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.273T>C (p.Cys91=) rs1358889476 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.364C>T (p.His122Tyr) rs148221053 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.430T>C (p.Phe144Leu) rs768539582 0.00001
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg) rs1303349629 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.638C>G (p.Thr213Ser) rs780570415 0.00001
NM_170784.3(MKKS):c.642A>G (p.Val214=) rs750470997 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.834C>G (p.Asn278Lys) rs575896442 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 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.945A>G (p.Arg315=) rs763720494 0.00001
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr) rs370219365 0.00001
NM_170784.3(MKKS):c.986-10T>G rs368654512 0.00001
NC_000020.10:g.(?_10256140)_(10654178_?)dup
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=)
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter) rs2122226112
NM_170784.3(MKKS):c.1032T>C (p.Tyr344=)
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn)
NM_170784.3(MKKS):c.1044A>G (p.Lys348=)
NM_170784.3(MKKS):c.1047T>C (p.Asp349=)
NM_170784.3(MKKS):c.105A>T (p.Ser35=)
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=)
NM_170784.3(MKKS):c.1110C>T (p.Ile370=)
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser) rs144892179
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
NM_170784.3(MKKS):c.111T>C (p.Tyr37=)
NM_170784.3(MKKS):c.1125C>T (p.Leu375=)
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
NM_170784.3(MKKS):c.1161+13_1161+19dup
NM_170784.3(MKKS):c.1161+16del
NM_170784.3(MKKS):c.1161+17G>C
NM_170784.3(MKKS):c.1162-10T>G
NM_170784.3(MKKS):c.1162-11T>C
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.1162-15T>G
NM_170784.3(MKKS):c.1162-5C>G
NM_170784.3(MKKS):c.1162-7T>C
NM_170784.3(MKKS):c.1164C>T (p.Leu388=) rs1302683154
NM_170784.3(MKKS):c.1167G>C (p.Thr389=)
NM_170784.3(MKKS):c.1167G>T (p.Thr389=)
NM_170784.3(MKKS):c.1170T>C (p.Cys390=)
NM_170784.3(MKKS):c.1176G>A (p.Thr392=) rs1441106610
NM_170784.3(MKKS):c.1181del (p.Leu394fs) rs2122223967
NM_170784.3(MKKS):c.1183C>T (p.His395Tyr)
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val)
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
NM_170784.3(MKKS):c.1191G>A (p.Leu397=)
NM_170784.3(MKKS):c.1203C>T (p.Leu401=)
NM_170784.3(MKKS):c.120A>C (p.Ser40=)
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg)
NM_170784.3(MKKS):c.1222T>C (p.Leu408=)
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs) rs1421664374
NM_170784.3(MKKS):c.123T>A (p.Gly41=)
NM_170784.3(MKKS):c.1257A>G (p.Ala419=)
NM_170784.3(MKKS):c.1260T>C (p.Tyr420=)
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+11T>C
NM_170784.3(MKKS):c.1272+14T>A
NM_170784.3(MKKS):c.1272+14T>C
NM_170784.3(MKKS):c.1272+16C>G
NM_170784.3(MKKS):c.1272+1G>A rs755716827
NM_170784.3(MKKS):c.1272+20T>C
NM_170784.3(MKKS):c.1272+2T>C
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
NM_170784.3(MKKS):c.1272+9G>A
NM_170784.3(MKKS):c.1273-8C>T
NM_170784.3(MKKS):c.1273-9A>G rs1239375783
NM_170784.3(MKKS):c.1278C>T (p.His426=)
NM_170784.3(MKKS):c.1281C>T (p.Asn427=)
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=)
NM_170784.3(MKKS):c.1299C>T (p.Leu433=)
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
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=)
NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly)
NM_170784.3(MKKS):c.1332A>G (p.Gln444=)
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.1351dup (p.Cys451fs)
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.1368T>C (p.Ser456=)
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe) rs1600843195
NM_170784.3(MKKS):c.1377C>T (p.Gly459=)
NM_170784.3(MKKS):c.1380T>C (p.Ser460=)
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val)
NM_170784.3(MKKS):c.1404T>C (p.Ile468=)
NM_170784.3(MKKS):c.1410T>C (p.Thr470=)
NM_170784.3(MKKS):c.1410T>G (p.Thr470=)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1437A>G (p.Ser479=)
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
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.147C>T (p.Gly49=)
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile) rs772349046
NM_170784.3(MKKS):c.1545C>T (p.Ser515=)
NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys)
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
NM_170784.3(MKKS):c.1569A>G (p.Gln523=)
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)
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.159C>T (p.Tyr53=)
NM_170784.3(MKKS):c.1602C>T (p.Ala534=) rs1408681070
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg) rs889037739
NM_170784.3(MKKS):c.1605C>T (p.Ser535=)
NM_170784.3(MKKS):c.1608C>T (p.Asn536=)
NM_170784.3(MKKS):c.1611G>A (p.Leu537=)
NM_170784.3(MKKS):c.162G>T (p.Val54=)
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly) rs149095209
NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro)
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser)
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=)
NM_170784.3(MKKS):c.1689A>T (p.Ser563=) rs147688404
NM_170784.3(MKKS):c.1692T>C (p.Tyr564=)
NM_170784.3(MKKS):c.1704T>C (p.Asp568=)
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) rs1600849412
NM_170784.3(MKKS):c.174A>C (p.Ser58=)
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=)
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro)
NM_170784.3(MKKS):c.192C>T (p.Leu64=)
NM_170784.3(MKKS):c.198C>T (p.His66=)
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.213T>C (p.His71=)
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
NM_170784.3(MKKS):c.251A>C (p.His84Pro) rs2064908864
NM_170784.3(MKKS):c.255G>T (p.Val85=)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly)
NM_170784.3(MKKS):c.27A>C (p.Pro9=)
NM_170784.3(MKKS):c.288T>C (p.Ala96=)
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser)
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile) rs776936558
NM_170784.3(MKKS):c.303C>T (p.Asn101=)
NM_170784.3(MKKS):c.30A>G (p.Ser10=)
NM_170784.3(MKKS):c.318T>G (p.Val106=)
NM_170784.3(MKKS):c.327A>G (p.Leu109=)
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser)
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg)
NM_170784.3(MKKS):c.336A>G (p.Thr112=)
NM_170784.3(MKKS):c.33G>A (p.Leu11=)
NM_170784.3(MKKS):c.357A>G (p.Leu119=)
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs) rs2122235619
NM_170784.3(MKKS):c.390T>C (p.Tyr130=)
NM_170784.3(MKKS):c.393C>G (p.Leu131=)
NM_170784.3(MKKS):c.393C>T (p.Leu131=)
NM_170784.3(MKKS):c.405C>T (p.Thr135=)
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>A (p.Gly137=)
NM_170784.3(MKKS):c.411T>C (p.Gly137=)
NM_170784.3(MKKS):c.415C>A (p.Arg139=)
NM_170784.3(MKKS):c.425T>C (p.Val142Ala) rs863224773
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.435T>C (p.Ser145=)
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
NM_170784.3(MKKS):c.462G>A (p.Val154=)
NM_170784.3(MKKS):c.469A>G (p.Ile157Val)
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu)
NM_170784.3(MKKS):c.47del (p.Pro16fs) rs1224308508
NM_170784.3(MKKS):c.498C>T (p.Leu166=) rs767797613
NM_170784.3(MKKS):c.504A>G (p.Arg168=)
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala)
NM_170784.3(MKKS):c.513A>G (p.Thr171=)
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.522C>G (p.Val174=)
NM_170784.3(MKKS):c.529T>C (p.Leu177=)
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly) rs1331122376
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile)
NM_170784.3(MKKS):c.540A>G (p.Arg180=)
NM_170784.3(MKKS):c.547T>C (p.Leu183=)
NM_170784.3(MKKS):c.561A>C (p.Pro187=)
NM_170784.3(MKKS):c.570T>C (p.Ala190=) rs1191520552
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp)
NM_170784.3(MKKS):c.582C>A (p.Ile194=) rs2064903385
NM_170784.3(MKKS):c.591A>G (p.Gly197=)
NM_170784.3(MKKS):c.594G>A (p.Lys198=)
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr)
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser)
NM_170784.3(MKKS):c.621A>G (p.Gln207=)
NM_170784.3(MKKS):c.628A>G (p.Ile210Val)
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.648T>A (p.Pro216=)
NM_170784.3(MKKS):c.64G>A (p.Val22Ile)
NM_170784.3(MKKS):c.657C>A (p.Leu219=)
NM_170784.3(MKKS):c.657C>T (p.Leu219=)
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
NM_170784.3(MKKS):c.663A>G (p.Glu221=)
NM_170784.3(MKKS):c.66C>A (p.Val22=)
NM_170784.3(MKKS):c.66C>G (p.Val22=)
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu)
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) rs2122234652
NM_170784.3(MKKS):c.678A>G (p.Gln226=)
NM_170784.3(MKKS):c.687G>A (p.Arg229=)
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln) rs2122234625
NM_170784.3(MKKS):c.690A>G (p.Leu230=)
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser)
NM_170784.3(MKKS):c.6T>C (p.Ser2=)
NM_170784.3(MKKS):c.708A>G (p.Ser236=)
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=)
NM_170784.3(MKKS):c.729C>T (p.Leu243=)
NM_170784.3(MKKS):c.732T>C (p.Phe244=)
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.738A>G (p.Thr246=)
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe) rs2122234451
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe)
NM_170784.3(MKKS):c.751G>C (p.Asp251His) rs2064900610
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala)
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=)
NM_170784.3(MKKS):c.76C>G (p.Leu26Val)
NM_170784.3(MKKS):c.783G>A (p.Val261=)
NM_170784.3(MKKS):c.783G>T (p.Val261=)
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.801T>G (p.Ser267=)
NM_170784.3(MKKS):c.81T>C (p.Ser27=)
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn) rs2064899452
NM_170784.3(MKKS):c.825G>T (p.Gln275His)
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp) rs578252932
NM_170784.3(MKKS):c.834C>T (p.Asn278=)
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr)
NM_170784.3(MKKS):c.843G>A (p.Arg281=)
NM_170784.3(MKKS):c.858C>T (p.Asp286=)
NM_170784.3(MKKS):c.859C>A (p.His287Asn)
NM_170784.3(MKKS):c.861C>T (p.His287=)
NM_170784.3(MKKS):c.864A>C (p.Val288=)
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg)
NM_170784.3(MKKS):c.889A>G (p.Ile297Val)
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=)
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro) rs770619894
NM_170784.3(MKKS):c.922C>A (p.His308Asn) rs1600848359
NM_170784.3(MKKS):c.937A>G (p.Ile313Val)
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.94A>G (p.Ile32Val) rs578110162
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser)
NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla)
NM_170784.3(MKKS):c.958_959del (p.Leu320fs) rs770908659
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_170784.3(MKKS):c.969C>G (p.Pro323=) rs762646572
NM_170784.3(MKKS):c.972G>T (p.Leu324=)
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer) rs2122236468
NM_170784.3(MKKS):c.985+13C>G
NM_170784.3(MKKS):c.985+13_985+14del rs2122233659
NM_170784.3(MKKS):c.985+20T>C
NM_170784.3(MKKS):c.985+7A>G
NM_170784.3(MKKS):c.985+9C>T
NM_170784.3(MKKS):c.986-10del
NM_170784.3(MKKS):c.986-13C>T
NM_170784.3(MKKS):c.986-19T>C
NM_170784.3(MKKS):c.986-4dup
NM_170784.3(MKKS):c.986-9A>G
NM_170784.3(MKKS):c.987A>G (p.Gly329=)
NM_170784.3(MKKS):c.993G>A (p.Gln331=)
NM_170784.3(MKKS):c.9T>G (p.Arg3=)

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