ClinVar Miner

List of variants studied for Klippel-Feil syndrome 1, autosomal dominant

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 391
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HGVS dbSNP gnomAD frequency
NM_001001557.4(GDF6):c.*380A>G rs2440199 0.66099
NM_001001557.4(GDF6):c.*2001A>G rs36028712 0.07344
NM_001001557.4(GDF6):c.*711G>T rs73698505 0.05287
NM_001001557.4(GDF6):c.*2216C>T rs7003079 0.05046
NM_001001557.4(GDF6):c.*1429_*1430del rs139734303 0.03848
NM_001001557.4(GDF6):c.*144G>A rs115887213 0.02912
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_001001557.4(GDF6):c.*1090G>C rs80085212 0.02491
NM_001001557.4(GDF6):c.*998G>C rs114201878 0.02016
NM_001001557.4(GDF6):c.*1084C>A rs77181285 0.02009
NM_001001557.4(GDF6):c.*577A>T rs75587676 0.01881
NM_001001557.4(GDF6):c.*172A>G rs115207215 0.01382
NM_001001557.4(GDF6):c.*2195C>T rs114060293 0.01004
NM_001001557.4(GDF6):c.*2170A>C rs141085775 0.00734
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_001001557.4(GDF6):c.*1978G>A rs112542818 0.00421
NM_001001557.4(GDF6):c.*767T>C rs569599062 0.00369
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_001001557.4(GDF6):c.*1671C>T rs191538930 0.00261
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001001557.4(GDF6):c.*842T>C rs192657480 0.00176
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) rs121909354 0.00098
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220 0.00090
NM_001001557.4(GDF6):c.*165C>T rs117125307 0.00088
NM_001001557.4(GDF6):c.*28G>A rs367847329 0.00071
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_001001557.4(GDF6):c.-86C>T rs966657559 0.00043
NM_001001557.4(GDF6):c.*273C>T rs868712251 0.00031
NM_001001557.4(GDF6):c.*620A>G rs558525706 0.00029
NM_001001557.4(GDF6):c.*271T>C rs1010244017 0.00027
NM_001001557.4(GDF6):c.407-3C>T rs374740957 0.00026
NM_001001557.4(GDF6):c.*2214C>T rs188995955 0.00024
NM_001001557.4(GDF6):c.921G>C (p.Ala307=) rs545149100 0.00024
NM_001001557.4(GDF6):c.*288T>A rs886063201 0.00023
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_001001557.4(GDF6):c.429C>T (p.Leu143=) rs375992269 0.00020
NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe) rs565877093 0.00019
NM_001001557.3(GDF6):c.*2243G>C rs142786788 0.00017
NM_001001557.4(GDF6):c.*405G>A rs748670958 0.00017
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) rs369859861 0.00016
NM_001001557.4(GDF6):c.407-20A>C rs536565151 0.00016
NM_001001557.4(GDF6):c.435A>G (p.Arg145=) rs369127445 0.00016
NM_001001557.4(GDF6):c.*725C>A rs1027526616 0.00015
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) rs762304422 0.00014
NM_001001557.4(GDF6):c.*2215G>A rs556295036 0.00013
NM_001001557.4(GDF6):c.483G>T (p.Leu161=) rs200585226 0.00009
NM_001001557.4(GDF6):c.90C>G (p.Ser30=) rs143020575 0.00009
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) rs757525366 0.00009
NM_001001557.4(GDF6):c.1071G>A (p.Lys357=) rs151332138 0.00007
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_001001557.4(GDF6):c.*734T>C rs1472827175 0.00006
NM_001001557.4(GDF6):c.1251C>T (p.Pro417=) rs552124580 0.00006
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) rs368498747 0.00006
NM_001001557.4(GDF6):c.700C>A (p.Arg234=) rs889118413 0.00006
NM_001001557.4(GDF6):c.726C>T (p.Ala242=) rs879574630 0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) rs768532556 0.00006
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) rs752600101 0.00005
NM_001001557.4(GDF6):c.186G>C (p.Arg62=) rs781205930 0.00005
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_001001557.4(GDF6):c.*205T>C rs946850223 0.00004
NM_001001557.4(GDF6):c.*529C>G rs755510632 0.00004
NM_001001557.4(GDF6):c.*647C>T rs1035980687 0.00004
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) rs749337343 0.00004
NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val) rs144578143 0.00004
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) rs375108591 0.00004
NM_001001557.4(GDF6):c.30C>A (p.Ala10=) rs778071820 0.00004
NM_001001557.4(GDF6):c.40A>G (p.Ile14Val) rs773668867 0.00004
NM_001001557.4(GDF6):c.528C>T (p.Pro176=) rs548565578 0.00004
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) rs886043381 0.00004
NM_001001557.4(GDF6):c.857G>A (p.Arg286His) rs764553577 0.00004
NM_001001557.4(GDF6):c.*891G>A rs376103537 0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001001557.4(GDF6):c.1293A>G (p.Leu431=) rs768948963 0.00003
NM_001001557.4(GDF6):c.33C>T (p.Val11=) rs756577201 0.00003
NM_001001557.4(GDF6):c.407-19A>G rs1445514042 0.00003
NM_001001557.4(GDF6):c.418C>G (p.His140Asp) rs370351474 0.00003
NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg) rs767572263 0.00003
NM_001001557.4(GDF6):c.594C>T (p.Asp198=) rs994022206 0.00003
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208 0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) rs747899927 0.00003
NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln) rs781155701 0.00003
NM_001001557.4(GDF6):c.*249G>A rs886063206 0.00002
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) rs774375234 0.00002
NM_001001557.4(GDF6):c.1302C>T (p.Asp434=) rs138730867 0.00002
NM_001001557.4(GDF6):c.18C>T (p.Val6=) rs745979763 0.00002
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) rs766458579 0.00002
NM_001001557.4(GDF6):c.546G>A (p.Gly182=) rs528471783 0.00002
NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr) rs1262253139 0.00002
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) rs772188117 0.00002
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) rs888138096 0.00002
NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr) rs200317462 0.00002
NM_001001557.4(GDF6):c.*106A>T rs1328888318 0.00001
NM_001001557.4(GDF6):c.*1083C>T rs1812406807 0.00001
NM_001001557.4(GDF6):c.*27G>A rs897020711 0.00001
NM_001001557.4(GDF6):c.*333G>T rs1432039910 0.00001
NM_001001557.4(GDF6):c.*546G>C rs867944559 0.00001
NM_001001557.4(GDF6):c.*781G>A rs528002823 0.00001
NM_001001557.4(GDF6):c.*868C>T rs1469921299 0.00001
NM_001001557.4(GDF6):c.*908G>A rs1812409030 0.00001
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly) rs774573217 0.00001
NM_001001557.4(GDF6):c.1140C>T (p.Ala380=) rs1266231101 0.00001
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser) rs984197099 0.00001
NM_001001557.4(GDF6):c.123G>A (p.Lys41=) rs756381156 0.00001
NM_001001557.4(GDF6):c.1254C>T (p.Ser418=) rs1195615332 0.00001
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) rs376427985 0.00001
NM_001001557.4(GDF6):c.157C>A (p.Arg53=) rs753326851 0.00001
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) rs1040541530 0.00001
NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg) rs1378920942 0.00001
NM_001001557.4(GDF6):c.225C>T (p.Pro75=) rs763584976 0.00001
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) rs988646683 0.00001
NM_001001557.4(GDF6):c.246G>T (p.Ala82=) rs770548453 0.00001
NM_001001557.4(GDF6):c.267T>C (p.Gly89=) rs769923080 0.00001
NM_001001557.4(GDF6):c.27G>A (p.Ser9=) rs1215904741 0.00001
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) rs1204502085 0.00001
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu) rs966679733 0.00001
NM_001001557.4(GDF6):c.403C>T (p.Leu135=) rs1021290257 0.00001
NM_001001557.4(GDF6):c.407-5C>T rs758091453 0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001001557.4(GDF6):c.492G>C (p.Ala164=) rs757029731 0.00001
NM_001001557.4(GDF6):c.534G>T (p.Gly178=) rs756016892 0.00001
NM_001001557.4(GDF6):c.554A>C (p.His185Pro) rs763275206 0.00001
NM_001001557.4(GDF6):c.583C>T (p.Leu195=) rs777218109 0.00001
NM_001001557.4(GDF6):c.606G>T (p.Leu202=) rs749079662 0.00001
NM_001001557.4(GDF6):c.642C>A (p.Val214=) rs1343770559 0.00001
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly) rs1812457627 0.00001
NM_001001557.4(GDF6):c.675C>T (p.Pro225=) rs1199396087 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg) rs1036909955 0.00001
NM_001001557.4(GDF6):c.716A>G (p.Glu239Gly) rs1050890994 0.00001
NM_001001557.4(GDF6):c.741G>A (p.Ala247=) rs563560538 0.00001
NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) rs750809706 0.00001
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) rs765707228 0.00001
NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu) rs762654952 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) rs760516509 0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) rs1401531865 0.00001
NM_001001557.4(GDF6):c.885G>A (p.Glu295=) rs565004364 0.00001
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) rs761634996 0.00001
NM_001001557.4(GDF6):c.924C>A (p.Gly308=) rs1586118480 0.00001
NM_001001557.4(GDF6):c.948G>A (p.Pro316=) rs774587683 0.00001
NM_001001557.4(GDF6):c.954C>T (p.Gly318=) rs1277401260 0.00001
NC_000008.10:g.(?_96037237)_(97345794_?)dup
NM_001001557.4(GDF6):c.*1043A>G rs1812407378
NM_001001557.4(GDF6):c.*1055G>A rs974182534
NM_001001557.4(GDF6):c.*1138G>A rs771172804
NM_001001557.4(GDF6):c.*1441C>T rs1812400204
NM_001001557.4(GDF6):c.*1781G>C rs779519494
NM_001001557.4(GDF6):c.*2122C>T rs183472001
NM_001001557.4(GDF6):c.*2189T>C rs1812387240
NM_001001557.4(GDF6):c.*268G>C rs575001243
NM_001001557.4(GDF6):c.*268_*275delinsCTTT rs886063205
NM_001001557.4(GDF6):c.*271_*272insC rs1554571161
NM_001001557.4(GDF6):c.*271_*272insCTC rs1554571161
NM_001001557.4(GDF6):c.*272_*278del rs886063203
NM_001001557.4(GDF6):c.*273CT[20] rs71275339
NM_001001557.4(GDF6):c.*274T>C rs188749696
NM_001001557.4(GDF6):c.*276T>C rs886063204
NM_001001557.4(GDF6):c.*280T>C rs886063202
NM_001001557.4(GDF6):c.*319A>C rs10626175
NM_001001557.4(GDF6):c.*320_*321insCTTT rs886063199
NM_001001557.4(GDF6):c.*321_*322del rs886063198
NM_001001557.4(GDF6):c.*322_*323insTT rs886063197
NM_001001557.4(GDF6):c.*58G>A rs886063207
NM_001001557.4(GDF6):c.*653C>A rs886063196
NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) rs1812445134
NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) rs2130238372
NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)
NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) rs764936321
NM_001001557.4(GDF6):c.1025A>G (p.His342Arg)
NM_001001557.4(GDF6):c.1032G>A (p.Lys344=)
NM_001001557.4(GDF6):c.1038C>T (p.His346=)
NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)
NM_001001557.4(GDF6):c.1080C>A (p.His360Gln) rs1812443639
NM_001001557.4(GDF6):c.1081G>A (p.Val361Met) rs771878776
NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)
NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser) rs745989382
NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser) rs1812746374
NM_001001557.4(GDF6):c.1116T>C (p.Ile372=)
NM_001001557.4(GDF6):c.1122G>C (p.Ala374=)
NM_001001557.4(GDF6):c.1125C>G (p.Pro375=)
NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr) rs2130205366
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
NM_001001557.4(GDF6):c.1146C>T (p.His382=)
NM_001001557.4(GDF6):c.1173G>A (p.Leu391=) rs1812441998
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) rs926947319
NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)
NM_001001557.4(GDF6):c.1194C>A (p.Thr398=) rs767633784
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)
NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) rs1812440547
NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)
NM_001001557.4(GDF6):c.1242C>T (p.Ser414=)
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) rs1269055850
NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) rs121909354
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile) rs769886732
NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)
NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser) rs1352200590
NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu)
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) rs1331641099
NM_001001557.4(GDF6):c.1347G>A (p.Val449=)
NM_001001557.4(GDF6):c.1348G>A (p.Glu450Lys) rs1812436715
NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)
NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser) rs1178158158
NM_001001557.4(GDF6):c.1365G>A (p.Arg455=)
NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser)
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
NM_001001557.4(GDF6):c.141G>A (p.Lys47=)
NM_001001557.4(GDF6):c.144A>G (p.Glu48=)
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
NM_001001557.4(GDF6):c.168C>G (p.Arg56=)
NM_001001557.4(GDF6):c.180G>A (p.Ala60=)
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
NM_001001557.4(GDF6):c.19C>T (p.Leu7=)
NM_001001557.4(GDF6):c.201A>G (p.Pro67=) rs2130238034
NM_001001557.4(GDF6):c.207G>T (p.Pro69=) rs2130238023
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
NM_001001557.4(GDF6):c.213T>G (p.Pro71=) rs1465598776
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) rs1040541530
NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln)
NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) rs2130237859
NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu)
NM_001001557.4(GDF6):c.246G>A (p.Ala82=)
NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)
NM_001001557.4(GDF6):c.252G>A (p.Glu84=)
NM_001001557.4(GDF6):c.258A>T (p.Pro86=) rs2130237722
NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser)
NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) rs768741148
NM_001001557.4(GDF6):c.273C>A (p.Arg91=)
NM_001001557.4(GDF6):c.276G>A (p.Val92=)
NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) rs367883918
NM_001001557.4(GDF6):c.283C>T (p.His95Tyr) rs2130237638
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
NM_001001557.4(GDF6):c.295C>T (p.Leu99=) rs746383854
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro) rs2130237604
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)
NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr) rs751465124
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) rs1812745847
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) rs1812739209
NM_001001557.4(GDF6):c.327G>A (p.Glu109=)
NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)
NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)
NM_001001557.4(GDF6):c.339C>T (p.Ile113=)
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) rs772435568
NM_001001557.4(GDF6):c.363C>T (p.Ser121=)
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) rs2130237421
NM_001001557.4(GDF6):c.366G>A (p.Lys122=)
NM_001001557.4(GDF6):c.36C>T (p.Phe12=)
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) rs536331514
NM_001001557.4(GDF6):c.378G>T (p.Thr126=) rs1812738202
NM_001001557.4(GDF6):c.387C>T (p.Ser129=) rs2130237359
NM_001001557.4(GDF6):c.393A>G (p.Val131=) rs2130237356
NM_001001557.4(GDF6):c.398G>A (p.Arg133Lys) rs2130237348
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
NM_001001557.4(GDF6):c.406+11A>G
NM_001001557.4(GDF6):c.406+15A>C
NM_001001557.4(GDF6):c.406+17A>G rs779812603
NM_001001557.4(GDF6):c.406+19G>A
NM_001001557.4(GDF6):c.406+19G>T
NM_001001557.4(GDF6):c.407-10dup
NM_001001557.4(GDF6):c.407-9A>G
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) rs2130208544
NM_001001557.4(GDF6):c.420C>T (p.His140=) rs375769410
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) rs1812463179
NM_001001557.4(GDF6):c.432G>C (p.Arg144=)
NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)
NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro) rs1470026888
NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn) rs2130208395
NM_001001557.4(GDF6):c.460A>C (p.Met154Leu) rs766667262
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) rs766667262
NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)
NM_001001557.4(GDF6):c.468A>G (p.Ser156=)
NM_001001557.4(GDF6):c.481C>G (p.Leu161Val) rs958381615
NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) rs886063209
NM_001001557.4(GDF6):c.513G>A (p.Gln171=) rs2130208153
NM_001001557.4(GDF6):c.534G>A (p.Gly178=)
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) rs1444302456
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
NM_001001557.4(GDF6):c.549G>T (p.Pro183=)
NM_001001557.4(GDF6):c.558G>A (p.Val186=)
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
NM_001001557.4(GDF6):c.598C>A (p.Arg200=)
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
NM_001001557.4(GDF6):c.603C>T (p.Thr201=)
NM_001001557.4(GDF6):c.604C>T (p.Leu202=) rs1175841699
NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)
NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)
NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) rs999492360
NM_001001557.4(GDF6):c.612G>A (p.Pro204=) rs777541984
NM_001001557.4(GDF6):c.612G>T (p.Pro204=)
NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)
NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)
NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr) rs2130207705
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) rs903826881
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)
NM_001001557.4(GDF6):c.627G>A (p.Pro209=)
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) rs552234954
NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)
NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu) rs2130207617
NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)
NM_001001557.4(GDF6):c.684G>C (p.Gln228His) rs1006833447
NM_001001557.4(GDF6):c.701G>A (p.Arg234Gln) rs748092776
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser) rs933957352
NM_001001557.4(GDF6):c.707C>T (p.Ala236Val) rs781041300
NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)
NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)
NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)
NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)
NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)
NM_001001557.4(GDF6):c.72G>A (p.Gln24=)
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)
NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)
NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu) rs1228278989
NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser) rs2130207135
NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys) rs750809706
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)
NM_001001557.4(GDF6):c.756C>T (p.Pro252=)
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) rs121909355
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) rs121909355
NM_001001557.4(GDF6):c.75G>A (p.Gln25=) rs776298591
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
NM_001001557.4(GDF6):c.765G>T (p.Pro255=)
NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)
NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)
NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)
NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)
NM_001001557.4(GDF6):c.774G>C (p.Pro258=) rs769581547
NM_001001557.4(GDF6):c.774G>T (p.Pro258=)
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) rs866273025
NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)
NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly)
NM_001001557.4(GDF6):c.832C>T (p.Leu278=) rs2130206656
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) rs2130238399
NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)
NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu) rs757715384
NM_001001557.4(GDF6):c.855G>C (p.Gln285His)
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) rs1303995573
NM_001001557.4(GDF6):c.861G>A (p.Lys287=)
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) rs765928590
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)
NM_001001557.4(GDF6):c.881G>A (p.Arg294His) rs2130206472
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) rs1451309614
NM_001001557.4(GDF6):c.897G>A (p.Ser299=)
NM_001001557.4(GDF6):c.897G>C (p.Ser299=)
NM_001001557.4(GDF6):c.903G>A (p.Glu301=) rs2130206381
NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)
NM_001001557.4(GDF6):c.915G>A (p.Pro305=) rs1399835264
NM_001001557.4(GDF6):c.915G>C (p.Pro305=)
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
NM_001001557.4(GDF6):c.923_928dup (p.306GA[3]) rs1224736770
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg) rs1812447441
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
NM_001001557.4(GDF6):c.942G>A (p.Pro314=)
NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)
NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)
NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)
NM_001001557.4(GDF6):c.951G>T (p.Ser317=)
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) rs779322747
NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala)
NM_001001557.4(GDF6):c.960G>A (p.Pro320=)
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly) rs376698111
NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del) rs141468446
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) rs121909356
NM_001001557.4(GDF6):c.986_1005del (p.Pro329fs) rs2130205786
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) rs1812445302
NM_001001557.4(GDF6):c.996G>T (p.Arg332=)
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) rs762461479
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) rs1568989210
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390

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