ClinVar Miner

List of variants studied for myoclonus-dystonia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 589
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HGVS dbSNP gnomAD frequency
NM_001282684.2(KCTD17):c.405C>T (p.His135=) rs710185 0.80939
NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr) rs113687833 0.11849
NM_003919.3(SGCE):c.391-3T>C rs17166384 0.08209
NM_001282684.2(KCTD17):c.897C>T (p.Pro299=) rs116956945 0.03645
NM_003919.3(SGCE):c.1253+814G>A rs183951730 0.00875
NM_001282684.2(KCTD17):c.791G>A (p.Arg264His) rs146127576 0.00432
NM_003919.3(SGCE):c.369G>C (p.Val123=) rs140913016 0.00393
NM_001282684.2(KCTD17):c.336G>A (p.Pro112=) rs35901190 0.00322
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) rs116105264 0.00283
NM_001282684.2(KCTD17):c.916C>G (p.His306Asp) rs146711968 0.00156
NM_003919.3(SGCE):c.1254-10T>C rs142854334 0.00144
NM_001282684.2(KCTD17):c.390+6G>A rs149432408 0.00111
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_003919.3(SGCE):c.510T>C (p.Asn170=) rs55853245 0.00036
NM_001282684.2(KCTD17):c.298+9G>C rs374499572 0.00035
NM_001282684.2(KCTD17):c.882C>T (p.Tyr294=) rs142739650 0.00033
NM_001282684.2(KCTD17):c.853C>T (p.Arg285Cys) rs199921196 0.00028
NM_003919.3(SGCE):c.1072C>T (p.Leu358=) rs139062360 0.00023
NM_003919.3(SGCE):c.429G>T (p.Arg143Ser) rs145010266 0.00019
NM_003919.3(SGCE):c.975G>A (p.Ser325=) rs145040065 0.00016
NM_001282684.2(KCTD17):c.777C>T (p.Pro259=) rs548803912 0.00015
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_001282684.2(KCTD17):c.894A>T (p.Ala298=) rs758691104 0.00014
NM_003919.3(SGCE):c.328A>G (p.Ser110Gly) rs370382282 0.00012
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys) rs199871508 0.00012
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile) rs762287154 0.00012
NM_003919.3(SGCE):c.138C>T (p.Ser46=) rs116632777 0.00011
NM_001282684.2(KCTD17):c.499G>A (p.Gly167Ser) rs200563649 0.00010
NM_001282684.2(KCTD17):c.42G>T (p.Ala14=) rs555901657 0.00009
NM_001282684.2(KCTD17):c.486+5G>A rs201383375 0.00008
NM_003919.3(SGCE):c.294T>C (p.Pro98=) rs138616225 0.00008
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) rs17851923 0.00007
NM_001282684.2(KCTD17):c.306G>A (p.Leu102=) rs755532238 0.00006
NM_001282684.2(KCTD17):c.498C>T (p.Ile166=) rs34395802 0.00006
NM_001282684.2(KCTD17):c.699T>C (p.Asp233=) rs969405373 0.00006
NM_001282684.2(KCTD17):c.99G>A (p.Thr33=) rs747826376 0.00006
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu) rs374697567 0.00006
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys) rs375983969 0.00006
NM_003919.3(SGCE):c.409C>T (p.Arg137Cys) rs557861177 0.00006
NM_001282684.2(KCTD17):c.234C>T (p.Phe78=) rs756682413 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_003919.3(SGCE):c.378A>C (p.Pro126=) rs746942662 0.00005
NM_001282684.2(KCTD17):c.123G>A (p.Thr41=) rs1307842544 0.00004
NM_003919.3(SGCE):c.1060C>T (p.Pro354Ser) rs983156830 0.00004
NM_003919.3(SGCE):c.1177G>A (p.Val393Met) rs150797717 0.00004
NM_003919.3(SGCE):c.142C>T (p.Arg48Trp) rs760964336 0.00004
NM_003919.3(SGCE):c.234C>T (p.Gly78=) rs768766085 0.00004
NM_003919.3(SGCE):c.305G>A (p.Arg102Gln) rs753195301 0.00004
NM_003919.3(SGCE):c.445A>G (p.Asn149Asp) rs780589840 0.00004
NM_003919.3(SGCE):c.59G>A (p.Arg20Gln) rs759241679 0.00004
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) rs200035109 0.00004
NM_003919.3(SGCE):c.738G>A (p.Leu246=) rs767137229 0.00004
NM_003919.3(SGCE):c.763G>A (p.Val255Ile) rs759032005 0.00004
NM_003919.3(SGCE):c.823T>C (p.Leu275=) rs780163710 0.00004
NM_003919.3(SGCE):c.895G>A (p.Gly299Arg) rs765792098 0.00004
NM_003919.3(SGCE):c.93C>T (p.Gly31=) rs748581376 0.00004
NM_001282684.2(KCTD17):c.785G>A (p.Gly262Asp) rs756711502 0.00003
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser) rs553677309 0.00003
NM_003919.3(SGCE):c.1036G>A (p.Val346Met) rs533652380 0.00003
NM_003919.3(SGCE):c.1141G>A (p.Ala381Thr) rs1341048280 0.00003
NM_003919.3(SGCE):c.1158G>A (p.Thr386=) rs368276611 0.00003
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln) rs148483382 0.00003
NM_003919.3(SGCE):c.14G>T (p.Arg5Leu) rs147148588 0.00003
NM_003919.3(SGCE):c.210A>G (p.Glu70=) rs907043992 0.00003
NM_003919.3(SGCE):c.279T>C (p.Gly93=) rs756901549 0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His) rs548306335 0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) rs768233445 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_003919.3(SGCE):c.662+6C>T rs761449603 0.00003
NM_003919.3(SGCE):c.692C>T (p.Pro231Leu) rs755996611 0.00003
NM_003919.3(SGCE):c.764T>C (p.Val255Ala) rs773893939 0.00003
NM_001282684.2(KCTD17):c.486+20G>A rs372989339 0.00002
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) rs764696852 0.00002
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp) rs757796461 0.00002
NM_003919.3(SGCE):c.1074G>A (p.Leu358=) rs983297904 0.00002
NM_003919.3(SGCE):c.109+15C>T rs747205304 0.00002
NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu) rs778866625 0.00002
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) rs199787155 0.00002
NM_003919.3(SGCE):c.421_423dup (p.Thr141dup) rs539327067 0.00002
NM_003919.3(SGCE):c.555C>T (p.Gly185=) rs768286622 0.00002
NM_003919.3(SGCE):c.591C>T (p.Asn197=) rs372968907 0.00002
NM_003919.3(SGCE):c.5A>C (p.Gln2Pro) rs755191122 0.00002
NM_003919.3(SGCE):c.693G>A (p.Pro231=) rs757206832 0.00002
NM_003919.3(SGCE):c.716T>C (p.Val239Ala) rs142833106 0.00002
NM_003919.3(SGCE):c.972C>T (p.Pro324=) rs1490533382 0.00002
NM_001282684.2(KCTD17):c.-10G>A rs1924496959 0.00001
NM_001282684.2(KCTD17):c.17G>A (p.Gly6Glu) rs1158242201 0.00001
NM_001282684.2(KCTD17):c.255C>G (p.Leu85=) rs147970401 0.00001
NM_001282684.2(KCTD17):c.299G>C (p.Gly100Ala) rs750023360 0.00001
NM_001282684.2(KCTD17):c.41C>T (p.Ala14Val) rs1300974634 0.00001
NM_001282684.2(KCTD17):c.444G>A (p.Thr148=) rs750621399 0.00001
NM_001282684.2(KCTD17):c.522C>T (p.Ser174=) rs577803443 0.00001
NM_001282684.2(KCTD17):c.569G>C (p.Ser190Thr) rs144682183 0.00001
NM_001282684.2(KCTD17):c.688G>T (p.Val230Leu) rs1258843342 0.00001
NM_001282684.2(KCTD17):c.854G>A (p.Arg285His) rs765037421 0.00001
NM_001282684.2(KCTD17):c.856C>G (p.Pro286Ala) rs371676360 0.00001
NM_001282684.2(KCTD17):c.875+14C>T rs754430753 0.00001
NM_001282684.2(KCTD17):c.93G>A (p.Gly31=) rs956007175 0.00001
NM_003919.3(SGCE):c.1015A>G (p.Met339Val) rs866020566 0.00001
NM_003919.3(SGCE):c.1028G>A (p.Arg343Gln) rs755083075 0.00001
NM_003919.3(SGCE):c.1038-4C>T rs745484720 0.00001
NM_003919.3(SGCE):c.1038-7T>C rs1158265768 0.00001
NM_003919.3(SGCE):c.1051A>G (p.Met351Val) rs1206683317 0.00001
NM_003919.3(SGCE):c.1054C>A (p.Gln352Lys) rs1562803158 0.00001
NM_003919.3(SGCE):c.1063G>C (p.Asp355His) rs1798915911 0.00001
NM_003919.3(SGCE):c.1064+16C>A rs951428613 0.00001
NM_003919.3(SGCE):c.1064+5G>C rs767951166 0.00001
NM_003919.3(SGCE):c.1065-2A>G rs368043832 0.00001
NM_003919.3(SGCE):c.1065-3T>C rs965437968 0.00001
NM_003919.3(SGCE):c.109+17C>A rs1471421199 0.00001
NM_003919.3(SGCE):c.110-9T>C rs781152122 0.00001
NM_003919.3(SGCE):c.1109A>G (p.Glu370Gly) rs781699232 0.00001
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) rs121908492 0.00001
NM_003919.3(SGCE):c.1115G>A (p.Arg372Gln) rs373904456 0.00001
NM_003919.3(SGCE):c.1176T>C (p.Pro392=) rs769125810 0.00001
NM_003919.3(SGCE):c.11C>T (p.Pro4Leu) rs372207991 0.00001
NM_003919.3(SGCE):c.1237T>C (p.Leu413=) rs147387740 0.00001
NM_003919.3(SGCE):c.1247C>T (p.Thr416Met) rs560154922 0.00001
NM_003919.3(SGCE):c.1253+15A>G rs1262368056 0.00001
NM_003919.3(SGCE):c.1275G>C (p.Gln425His) rs762720842 0.00001
NM_003919.3(SGCE):c.1285C>G (p.Gln429Glu) rs371568101 0.00001
NM_003919.3(SGCE):c.135C>T (p.His45=) rs1394843820 0.00001
NM_003919.3(SGCE):c.13C>G (p.Arg5Gly) rs966640985 0.00001
NM_003919.3(SGCE):c.147T>G (p.Asn49Lys) rs772230342 0.00001
NM_003919.3(SGCE):c.194A>T (p.Glu65Val) rs1804379561 0.00001
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg) rs1271444866 0.00001
NM_003919.3(SGCE):c.220T>C (p.Tyr74His) rs1804372933 0.00001
NM_003919.3(SGCE):c.232+4T>C rs372244157 0.00001
NM_003919.3(SGCE):c.241A>G (p.Ser81Gly) rs758164053 0.00001
NM_003919.3(SGCE):c.24G>C (p.Glu8Asp) rs1808633312 0.00001
NM_003919.3(SGCE):c.283C>T (p.Pro95Ser) rs1187045400 0.00001
NM_003919.3(SGCE):c.290G>A (p.Arg97Gln) rs11548285 0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) rs121908490 0.00001
NM_003919.3(SGCE):c.351C>T (p.Ser117=) rs1804066636 0.00001
NM_003919.3(SGCE):c.358G>A (p.Ala120Thr) rs1234121565 0.00001
NM_003919.3(SGCE):c.45G>A (p.Trp15Ter) rs1295669429 0.00001
NM_003919.3(SGCE):c.463+19T>G rs759488852 0.00001
NM_003919.3(SGCE):c.500A>G (p.Lys167Arg) rs779127500 0.00001
NM_003919.3(SGCE):c.547T>C (p.Phe183Leu) rs1003818215 0.00001
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) rs746585235 0.00001
NM_003919.3(SGCE):c.584G>A (p.Arg195His) rs746331571 0.00001
NM_003919.3(SGCE):c.618C>T (p.Asp206=) rs1196762234 0.00001
NM_003919.3(SGCE):c.656A>T (p.Lys219Met) rs1802319616 0.00001
NM_003919.3(SGCE):c.664G>A (p.Val222Ile) rs754956483 0.00001
NM_003919.3(SGCE):c.704G>C (p.Cys235Ser) rs958186178 0.00001
NM_003919.3(SGCE):c.711A>G (p.Arg237=) rs1193322554 0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) rs794727794 0.00001
NM_003919.3(SGCE):c.77G>A (p.Ser26Asn) rs773531358 0.00001
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn) rs781326840 0.00001
NM_003919.3(SGCE):c.850A>G (p.Thr284Ala) rs986900959 0.00001
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu) rs775468466 0.00001
NM_003919.3(SGCE):c.864G>A (p.Val288=) rs772144979 0.00001
NM_003919.3(SGCE):c.879G>A (p.Gly293=) rs781005887 0.00001
NM_003919.3(SGCE):c.884T>C (p.Leu295Ser) rs142079200 0.00001
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser) rs757835571 0.00001
NM_003919.3(SGCE):c.909C>T (p.Pro303=) rs764483578 0.00001
NM_003919.3(SGCE):c.945G>A (p.Thr315=) rs539333988 0.00001
NM_003919.3(SGCE):c.94A>G (p.Thr32Ala) rs955348597 0.00001
NM_003919.3(SGCE):c.960A>C (p.Thr320=) rs774546647 0.00001
NM_003919.3(SGCE):c.967G>A (p.Val323Met) rs147550814 0.00001
NM_003919.3(SGCE):c.96A>G (p.Thr32=) rs1034414453 0.00001
NM_003919.3(SGCE):c.974C>T (p.Ser325Leu) rs559353446 0.00001
NM_003919.3(SGCE):c.9G>A (p.Leu3=) rs751698983 0.00001
NC_000007.13:g.(?_94214811)_(94252729_?)dup
NC_000007.13:g.(?_94228081)_(94232770_?)del
NC_000007.13:g.(?_94232582)_(94232784_?)del
NC_000007.13:g.(?_94248050)_(94248288_?)del
NC_000007.13:g.(?_94248050)_(94252729_?)del
NC_000007.13:g.(?_94252617)_(94252729_?)del
NC_000007.13:g.(?_94252627)_(94252719_?)del
NC_000007.13:g.(?_94257494)_(94285410_?)del
NC_000007.13:g.(?_94285282)_(94285410_?)del
NC_000007.13:g.(?_94285282)_(94285430_?)dup
NC_000007.14:g.(?_94395012)_(94656118_?)del
NC_000007.14:g.(?_94598775)_(94603452_?)del
NC_000007.14:g.(?_94628182)_(94628379_?)del
NC_000022.10:g.(?_37154355)_(39148633_?)del
NM_001282684.2(KCTD17):c.-11C>G
NM_001282684.2(KCTD17):c.144C>T (p.Ser48=) rs572333922
NM_001282684.2(KCTD17):c.189+19G>A
NM_001282684.2(KCTD17):c.18G>C (p.Gly6=)
NM_001282684.2(KCTD17):c.190-15C>T
NM_001282684.2(KCTD17):c.199G>C (p.Gly67Arg)
NM_001282684.2(KCTD17):c.202G>A (p.Ala68Thr)
NM_001282684.2(KCTD17):c.20A>G (p.Glu7Gly) rs1440603288
NM_001282684.2(KCTD17):c.283G>C (p.Asp95His)
NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)
NM_001282684.2(KCTD17):c.332G>A (p.Gly111Asp) rs2145972098
NM_001282684.2(KCTD17):c.332G>T (p.Gly111Val)
NM_001282684.2(KCTD17):c.346A>C (p.Ile116Leu)
NM_001282684.2(KCTD17):c.360G>A (p.Arg120=)
NM_001282684.2(KCTD17):c.380C>T (p.Thr127Met)
NM_001282684.2(KCTD17):c.390+13G>A
NM_001282684.2(KCTD17):c.390+20C>A
NM_001282684.2(KCTD17):c.391-14C>T
NM_001282684.2(KCTD17):c.391-8G>T rs770530808
NM_001282684.2(KCTD17):c.40G>T (p.Ala14Ser)
NM_001282684.2(KCTD17):c.415G>T (p.Val139Leu)
NM_001282684.2(KCTD17):c.42G>A (p.Ala14=)
NM_001282684.2(KCTD17):c.436G>A (p.Glu146Lys)
NM_001282684.2(KCTD17):c.475C>T (p.Arg159Cys)
NM_001282684.2(KCTD17):c.486+4C>T
NM_001282684.2(KCTD17):c.489G>T (p.Leu163=)
NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)
NM_001282684.2(KCTD17):c.529C>A (p.Gln177Lys) rs1601495318
NM_001282684.2(KCTD17):c.535G>A (p.Glu179Lys) rs6000546
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)
NM_001282684.2(KCTD17):c.557A>G (p.Lys186Arg)
NM_001282684.2(KCTD17):c.571A>G (p.Thr191Ala) rs2145986921
NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)
NM_001282684.2(KCTD17):c.57A>C (p.Ala19=)
NM_001282684.2(KCTD17):c.580G>A (p.Gly194Arg)
NM_001282684.2(KCTD17):c.601C>T (p.Arg201Cys)
NM_001282684.2(KCTD17):c.611A>C (p.Lys204Thr) rs1601495664
NM_001282684.2(KCTD17):c.612+12C>T
NM_001282684.2(KCTD17):c.613-14C>T
NM_001282684.2(KCTD17):c.613-17C>T
NM_001282684.2(KCTD17):c.617C>T (p.Thr206Met)
NM_001282684.2(KCTD17):c.634G>A (p.Glu212Lys)
NM_001282684.2(KCTD17):c.653_667dup (p.Glu222_Val223insGluGluValGluGlu)
NM_001282684.2(KCTD17):c.656AGGTGGAGG[1] (p.219EVE[1])
NM_001282684.2(KCTD17):c.668T>C (p.Val223Ala) rs2145994501
NM_001282684.2(KCTD17):c.6G>C (p.Arg2Ser)
NM_001282684.2(KCTD17):c.735T>G (p.Ala245=)
NM_001282684.2(KCTD17):c.770C>T (p.Pro257Leu)
NM_001282684.2(KCTD17):c.771G>A (p.Pro257=)
NM_001282684.2(KCTD17):c.785-10C>T
NM_001282684.2(KCTD17):c.785-15G>A
NM_001282684.2(KCTD17):c.790C>T (p.Arg264Cys)
NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)
NM_001282684.2(KCTD17):c.795G>A (p.Pro265=)
NM_001282684.2(KCTD17):c.842G>A (p.Arg281Gln) rs770794932
NM_001282684.2(KCTD17):c.842G>C (p.Arg281Pro)
NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)
NM_001282684.2(KCTD17):c.875+15G>A
NM_001282684.2(KCTD17):c.875+9C>T
NM_001282684.2(KCTD17):c.876-13C>G
NM_001282684.2(KCTD17):c.876-13_876-12del rs754259514
NM_001282684.2(KCTD17):c.876-20T>G
NM_001282684.2(KCTD17):c.876-5dup
NM_001282684.2(KCTD17):c.892G>A (p.Ala298Thr)
NM_001282684.2(KCTD17):c.898G>A (p.Gly300Arg)
NM_001282684.2(KCTD17):c.898G>T (p.Gly300Ter)
NM_001282684.2(KCTD17):c.906G>A (p.Glu302=)
NM_001282684.2(KCTD17):c.90G>C (p.Val30=)
NM_001282684.2(KCTD17):c.941T>C (p.Ile314Thr)
NM_003919.3(SGCE):c.1003C>T (p.Leu335Phe) rs1799068772
NM_003919.3(SGCE):c.1010A>G (p.Tyr337Cys) rs1799066913
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)
NM_003919.3(SGCE):c.1016T>C (p.Met339Thr) rs1468730105
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
NM_003919.3(SGCE):c.1037+10T>G rs2116693166
NM_003919.3(SGCE):c.1037+19A>T
NM_003919.3(SGCE):c.1037+3del
NM_003919.3(SGCE):c.1038-12T>C
NM_003919.3(SGCE):c.1038-13G>A
NM_003919.3(SGCE):c.1038-18A>G rs779693236
NM_003919.3(SGCE):c.1038-9T>G rs1187065404
NM_003919.3(SGCE):c.1038G>C (p.Val346=) rs1584526749
NM_003919.3(SGCE):c.103C>T (p.Leu35=) rs1808616421
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)
NM_003919.3(SGCE):c.1046G>C (p.Arg349Thr) rs1798921521
NM_003919.3(SGCE):c.104T>C (p.Leu35Pro) rs2117137538
NM_003919.3(SGCE):c.1052T>C (p.Met351Thr)
NM_003919.3(SGCE):c.1058C>A (p.Thr353Lys) rs2116684872
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
NM_003919.3(SGCE):c.1062A>G (p.Pro354=)
NM_003919.3(SGCE):c.1064+11T>A
NM_003919.3(SGCE):c.1064+14T>C
NM_003919.3(SGCE):c.1064+17C>T
NM_003919.3(SGCE):c.1064+19G>C
NM_003919.3(SGCE):c.1064+3_1064+6del rs1304738505
NM_003919.3(SGCE):c.1064+9C>T rs1798913576
NM_003919.3(SGCE):c.1065-22_1065-18del rs766688362
NM_003919.3(SGCE):c.1065-22_1065-20del rs752597509
NM_003919.3(SGCE):c.1065-6A>G
NM_003919.3(SGCE):c.1065C>T (p.Asp355=) rs886062520
NM_003919.3(SGCE):c.1072C>G (p.Leu358Val)
NM_003919.3(SGCE):c.1075G>A (p.Val359Ile)
NM_003919.3(SGCE):c.1075G>C (p.Val359Leu)
NM_003919.3(SGCE):c.1078C>T (p.His360Tyr) rs2116677287
NM_003919.3(SGCE):c.107C>T (p.Thr36Ile) rs2117137516
NM_003919.3(SGCE):c.109+1G>A rs1808615750
NM_003919.3(SGCE):c.109+2T>C rs2117137466
NM_003919.3(SGCE):c.109+3dup rs2117137426
NM_003919.3(SGCE):c.109+4A>G
NM_003919.3(SGCE):c.1091T>C (p.Ile364Thr) rs1798813790
NM_003919.3(SGCE):c.109G>A (p.Val37Met) rs1562916805
NM_003919.3(SGCE):c.110-10T>G
NM_003919.3(SGCE):c.110-15C>T
NM_003919.3(SGCE):c.110-1G>T
NM_003919.3(SGCE):c.1101T>A (p.Ser367=) rs756672671
NM_003919.3(SGCE):c.1104C>A (p.Thr368=) rs978868528
NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg) rs753092622
NM_003919.3(SGCE):c.1107G>A (p.Lys369=)
NM_003919.3(SGCE):c.1121T>C (p.Met374Thr) rs751967746
NM_003919.3(SGCE):c.1122G>A (p.Met374Ile) rs1798808645
NM_003919.3(SGCE):c.1129A>C (p.Asn377His) rs763064939
NM_003919.3(SGCE):c.1134A>C (p.Arg378Ser) rs886043602
NM_003919.3(SGCE):c.1135G>A (p.Glu379Lys)
NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr) rs765193255
NM_003919.3(SGCE):c.1151T>G (p.Leu384Arg) rs2116675766
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro) rs1274760811
NM_003919.3(SGCE):c.1155A>G (p.Ser385=)
NM_003919.3(SGCE):c.1156A>G (p.Thr386Ala)
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg) rs370800943
NM_003919.3(SGCE):c.1157C>T (p.Thr386Met)
NM_003919.3(SGCE):c.1178T>C (p.Val393Ala)
NM_003919.3(SGCE):c.1186G>A (p.Glu396Lys) rs781781262
NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala) rs747427574
NM_003919.3(SGCE):c.1195C>T (p.Pro399Ser)
NM_003919.3(SGCE):c.1196C>G (p.Pro399Arg)
NM_003919.3(SGCE):c.1198C>T (p.Pro400Ser) rs2116674435
NM_003919.3(SGCE):c.1202T>C (p.Leu401Ser)
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs) rs886039595
NM_003919.3(SGCE):c.1214A>G (p.Asn405Ser) rs1584521458
NM_003919.3(SGCE):c.1217A>G (p.Tyr406Cys)
NM_003919.3(SGCE):c.1218T>C (p.Tyr406=)
NM_003919.3(SGCE):c.1221T>C (p.Asp407=)
NM_003919.3(SGCE):c.1234C>T (p.Pro412Ser)
NM_003919.3(SGCE):c.1238T>C (p.Leu413Ser) rs1562800480
NM_003919.3(SGCE):c.1245A>G (p.Gln415=)
NM_003919.3(SGCE):c.1248G>C (p.Thr416=) rs759435338
NM_003919.3(SGCE):c.1253+14T>C
NM_003919.3(SGCE):c.1253+16G>A
NM_003919.3(SGCE):c.1253+16G>C
NM_003919.3(SGCE):c.1253+2dup rs1798783016
NM_003919.3(SGCE):c.1253+811A>C rs10247562
NM_003919.3(SGCE):c.1254-10del rs1584475449
NM_003919.3(SGCE):c.1254-9_1254-7del rs201696689
NM_003919.3(SGCE):c.1265A>C (p.His422Pro)
NM_003919.3(SGCE):c.1271C>G (p.Thr424Ser)
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr) rs1023091295
NM_003919.3(SGCE):c.1294A>G (p.Thr432Ala)
NM_003919.3(SGCE):c.1295C>T (p.Thr432Ile)
NM_003919.3(SGCE):c.1297+12G>T
NM_003919.3(SGCE):c.1297+18T>C rs761278877
NM_003919.3(SGCE):c.1297+19A>G
NM_003919.3(SGCE):c.1298-10C>T rs1584460451
NM_003919.3(SGCE):c.1298-14C>A
NM_003919.3(SGCE):c.1298-18C>T rs1796774548
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs) rs1804394258
NM_003919.3(SGCE):c.133C>A (p.His45Asn)
NM_003919.3(SGCE):c.133C>T (p.His45Tyr)
NM_003919.3(SGCE):c.139G>T (p.Asp47Tyr)
NM_003919.3(SGCE):c.142C>A (p.Arg48=) rs760964336
NM_003919.3(SGCE):c.148G>A (p.Val50Ile) rs1562867795
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter) rs2116972912
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter)
NM_003919.3(SGCE):c.158C>T (p.Ser53Leu) rs1231727428
NM_003919.3(SGCE):c.15G>T (p.Arg5=) rs1808636031
NM_003919.3(SGCE):c.169C>T (p.Leu57Phe)
NM_003919.3(SGCE):c.172T>A (p.Phe58Ile)
NM_003919.3(SGCE):c.172T>C (p.Phe58Leu)
NM_003919.3(SGCE):c.176T>C (p.Val59Ala) rs1584700773
NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter) rs2116972508
NM_003919.3(SGCE):c.193_194del (p.Glu65fs) rs2116972578
NM_003919.3(SGCE):c.207G>A (p.Gly69=)
NM_003919.3(SGCE):c.210A>T (p.Glu70Asp) rs907043992
NM_003919.3(SGCE):c.218C>T (p.Pro73Leu) rs758030589
NM_003919.3(SGCE):c.225A>T (p.Pro75=) rs2116972106
NM_003919.3(SGCE):c.22G>C (p.Glu8Gln) rs1341174498
NM_003919.3(SGCE):c.232+14G>A rs2116971817
NM_003919.3(SGCE):c.232+15A>G
NM_003919.3(SGCE):c.232+16G>A
NM_003919.3(SGCE):c.232+18A>G
NM_003919.3(SGCE):c.232+1G>C
NM_003919.3(SGCE):c.232+1G>T rs1057517990
NM_003919.3(SGCE):c.232+4del rs1554359605
NM_003919.3(SGCE):c.232+5G>A rs1554359595
NM_003919.3(SGCE):c.233-5T>A rs749444131
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)
NM_003919.3(SGCE):c.246T>C (p.Asn82=)
NM_003919.3(SGCE):c.246T>G (p.Asn82Lys)
NM_003919.3(SGCE):c.252C>T (p.Pro84=)
NM_003919.3(SGCE):c.252_253del (p.Ile85fs)
NM_003919.3(SGCE):c.257C>G (p.Thr86Arg)
NM_003919.3(SGCE):c.263A>G (p.Asn88Ser)
NM_003919.3(SGCE):c.268A>T (p.Asn90Tyr) rs1292233652
NM_003919.3(SGCE):c.285A>G (p.Pro95=)
NM_003919.3(SGCE):c.287A>G (p.Asp96Gly) rs1804079600
NM_003919.3(SGCE):c.288C>A (p.Asp96Glu) rs1804079106
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) rs121908489
NM_003919.3(SGCE):c.28G>T (p.Gly10Ter)
NM_003919.3(SGCE):c.294T>A (p.Pro98=) rs138616225
NM_003919.3(SGCE):c.300G>C (p.Trp100Cys) rs2116959448
NM_003919.3(SGCE):c.300del (p.Trp100fs) rs1554358727
NM_003919.3(SGCE):c.301C>A (p.Leu101Ile)
NM_003919.3(SGCE):c.304C>A (p.Arg102=)
NM_003919.3(SGCE):c.306A>G (p.Arg102=)
NM_003919.3(SGCE):c.31G>C (p.Asp11His)
NM_003919.3(SGCE):c.320C>T (p.Thr107Ile)
NM_003919.3(SGCE):c.321del (p.Pro108fs) rs2116959244
NM_003919.3(SGCE):c.324A>G (p.Pro108=)
NM_003919.3(SGCE):c.32A>G (p.Asp11Gly) rs1021265778
NM_003919.3(SGCE):c.33C>T (p.Asp11=) rs753678586
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys) rs2116958989
NM_003919.3(SGCE):c.353dup (p.Thr119fs)
NM_003919.3(SGCE):c.370G>A (p.Gly124Arg) rs142076876
NM_003919.3(SGCE):c.380C>G (p.Thr127Arg)
NM_003919.3(SGCE):c.381A>G (p.Thr127=)
NM_003919.3(SGCE):c.384C>T (p.Ile128=)
NM_003919.3(SGCE):c.386T>C (p.Ile129Thr) rs1554358639
NM_003919.3(SGCE):c.390+10A>G
NM_003919.3(SGCE):c.390+12C>G
NM_003919.3(SGCE):c.390+14A>C
NM_003919.3(SGCE):c.390+2T>C
NM_003919.3(SGCE):c.390+3A>C
NM_003919.3(SGCE):c.390+4A>G
NM_003919.3(SGCE):c.391-18G>C rs199922447
NM_003919.3(SGCE):c.391-19G>A rs2116919102
NM_003919.3(SGCE):c.391-1G>A rs1803142505
NM_003919.3(SGCE):c.391-1G>T
NM_003919.3(SGCE):c.39T>C (p.Cys13=) rs2117138280
NM_003919.3(SGCE):c.405C>T (p.Asn135=) rs2116918607
NM_003919.3(SGCE):c.409C>A (p.Arg137Ser) rs557861177
NM_003919.3(SGCE):c.410G>C (p.Arg137Pro)
NM_003919.3(SGCE):c.413C>A (p.Thr138Asn) rs777335847
NM_003919.3(SGCE):c.413C>G (p.Thr138Ser) rs777335847
NM_003919.3(SGCE):c.41C>T (p.Ala14Val) rs2117138245
NM_003919.3(SGCE):c.434A>G (p.Asn145Ser)
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_003919.3(SGCE):c.436T>C (p.Leu146=) rs752074255
NM_003919.3(SGCE):c.440T>G (p.Ile147Arg) rs1803133053
NM_003919.3(SGCE):c.441_443del (p.Ile148del)
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer) rs1584663425
NM_003919.3(SGCE):c.446A>C (p.Asn149Thr) rs991557646
NM_003919.3(SGCE):c.448_452del (p.Ile150fs) rs2116918021
NM_003919.3(SGCE):c.452T>A (p.Met151Lys) rs750679376
NM_003919.3(SGCE):c.458C>T (p.Ala153Val) rs1482958226
NM_003919.3(SGCE):c.463+12A>T
NM_003919.3(SGCE):c.463+13A>T
NM_003919.3(SGCE):c.463+15_463+16del
NM_003919.3(SGCE):c.463+17G>A
NM_003919.3(SGCE):c.463+19T>C rs759488852
NM_003919.3(SGCE):c.463+1G>A rs1584663290
NM_003919.3(SGCE):c.463+20G>T
NM_003919.3(SGCE):c.463+2T>A rs2116917821
NM_003919.3(SGCE):c.463+5G>C rs1210401434
NM_003919.3(SGCE):c.463+6T>G rs754002445
NM_003919.3(SGCE):c.464-14T>A rs187568437
NM_003919.3(SGCE):c.464-14T>C
NM_003919.3(SGCE):c.464-20C>T
NM_003919.3(SGCE):c.470del (p.Pro157fs) rs1554353106
NM_003919.3(SGCE):c.475C>T (p.Pro159Ser) rs1802351511
NM_003919.3(SGCE):c.484G>A (p.Ala162Thr)
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)
NM_003919.3(SGCE):c.495_498del (p.Phe165fs) rs2116882526
NM_003919.3(SGCE):c.4C>T (p.Gln2Ter)
NM_003919.3(SGCE):c.506T>C (p.Met169Thr) rs1293308593
NM_003919.3(SGCE):c.513A>G (p.Val171=)
NM_003919.3(SGCE):c.51A>G (p.Gly17=) rs2117138100
NM_003919.3(SGCE):c.521T>A (p.Met174Lys)
NM_003919.3(SGCE):c.535G>A (p.Val179Ile) rs762854508
NM_003919.3(SGCE):c.536T>C (p.Val179Ala) rs886062521
NM_003919.3(SGCE):c.538C>A (p.Leu180Ile)
NM_003919.3(SGCE):c.550C>T (p.Leu184Phe) rs761551499
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_003919.3(SGCE):c.557C>G (p.Ala186Gly)
NM_003919.3(SGCE):c.557C>T (p.Ala186Val)
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer) rs1554352906
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser) rs767335346
NM_003919.3(SGCE):c.561G>A (p.Val187=) rs1194137933
NM_003919.3(SGCE):c.561G>C (p.Val187=)
NM_003919.3(SGCE):c.567T>C (p.Asn189=) rs1802334402
NM_003919.3(SGCE):c.571_572del (p.Trp191fs) rs2116881558
NM_003919.3(SGCE):c.577C>T (p.Pro193Ser)
NM_003919.3(SGCE):c.579A>G (p.Pro193=)
NM_003919.3(SGCE):c.579del (p.Glu194fs)
NM_003919.3(SGCE):c.580del (p.Glu194fs) rs2116881481
NM_003919.3(SGCE):c.583C>T (p.Arg195Cys)
NM_003919.3(SGCE):c.600C>T (p.Asn200=) rs2116881251
NM_003919.3(SGCE):c.604dup (p.Thr202fs) rs2116881189
NM_003919.3(SGCE):c.606A>C (p.Thr202=) rs148979783
NM_003919.3(SGCE):c.609G>A (p.Ser203=)
NM_003919.3(SGCE):c.610del (p.Ala204fs) rs1584637958
NM_003919.3(SGCE):c.619del (p.Arg207fs) rs1554352819
NM_003919.3(SGCE):c.61G>A (p.Gly21Arg)
NM_003919.3(SGCE):c.623_650del (p.Gly208fs) rs2116880618
NM_003919.3(SGCE):c.627C>T (p.Gly209=) rs1395758109
NM_003919.3(SGCE):c.632T>G (p.Val211Gly)
NM_003919.3(SGCE):c.636A>G (p.Pro212=)
NM_003919.3(SGCE):c.643A>G (p.Ile215Val)
NM_003919.3(SGCE):c.646A>G (p.Asn216Asp) rs2116880651
NM_003919.3(SGCE):c.651C>A (p.Asp217Glu) rs2116880601
NM_003919.3(SGCE):c.658del (p.Glu220fs) rs2116880537
NM_003919.3(SGCE):c.662+19C>T
NM_003919.3(SGCE):c.662+1G>C
NM_003919.3(SGCE):c.662+2T>A rs2116880438
NM_003919.3(SGCE):c.663-19G>T
NM_003919.3(SGCE):c.663-2A>T rs2116724997
NM_003919.3(SGCE):c.663-3C>G rs2116725021
NM_003919.3(SGCE):c.663-4_666del rs2116724823
NM_003919.3(SGCE):c.663-5T>C rs748327900
NM_003919.3(SGCE):c.663-9dup rs757096943
NM_003919.3(SGCE):c.663C>G (p.Gly221=) rs781270494
NM_003919.3(SGCE):c.663del (p.Val222fs) rs1562812370
NM_003919.3(SGCE):c.66A>G (p.Thr22=)
NM_003919.3(SGCE):c.670G>C (p.Val224Leu) rs374149816
NM_003919.3(SGCE):c.674T>C (p.Met225Thr)
NM_003919.3(SGCE):c.677T>C (p.Val226Ala) rs1799584951
NM_003919.3(SGCE):c.67C>T (p.Arg23Cys) rs774045225
NM_003919.3(SGCE):c.686A>T (p.Asp229Val)
NM_003919.3(SGCE):c.68G>T (p.Arg23Leu)
NM_003919.3(SGCE):c.693G>C (p.Pro231=)
NM_003919.3(SGCE):c.704_707del (p.Cys235fs) rs2116724268
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) rs398123812
NM_003919.3(SGCE):c.710G>A (p.Arg237Gln) rs1217843572
NM_003919.3(SGCE):c.722A>G (p.Asn241Ser)
NM_003919.3(SGCE):c.724C>T (p.Pro242Ser) rs1554345175
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter) rs1554345170
NM_003919.3(SGCE):c.729G>C (p.Gln243His)
NM_003919.3(SGCE):c.731A>C (p.Asn244Thr)
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter) rs1554345162
NM_003919.3(SGCE):c.734_737del (p.Gln245fs)
NM_003919.3(SGCE):c.736T>C (p.Leu246=)
NM_003919.3(SGCE):c.741A>T (p.Arg247Ser) rs1799572106
NM_003919.3(SGCE):c.742dup (p.Cys248fs)
NM_003919.3(SGCE):c.743G>A (p.Cys248Tyr) rs2116723467
NM_003919.3(SGCE):c.749A>G (p.Gln250Arg)
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter) rs2116723386
NM_003919.3(SGCE):c.754A>G (p.Met252Val)
NM_003919.3(SGCE):c.757G>A (p.Glu253Lys)
NM_003919.3(SGCE):c.770C>T (p.Thr257Ile)
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer)
NM_003919.3(SGCE):c.777T>G (p.Asp259Glu) rs2116723007
NM_003919.3(SGCE):c.783A>G (p.Lys261=)
NM_003919.3(SGCE):c.783dup (p.Phe262fs) rs1189469219
NM_003919.3(SGCE):c.788G>A (p.Arg263His) rs375899729
NM_003919.3(SGCE):c.790A>G (p.Thr264Ala)
NM_003919.3(SGCE):c.795del (p.Gln265fs) rs1554345077
NM_003919.3(SGCE):c.799del (p.Tyr267fs) rs1799563986
NM_003919.3(SGCE):c.802dup (p.Ile268fs) rs2116722561
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter)
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) rs1562811414
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter) rs2116722345
NM_003919.3(SGCE):c.81C>T (p.Pro27=) rs1318367897
NM_003919.3(SGCE):c.822A>T (p.Ser274=)
NM_003919.3(SGCE):c.825+12T>C
NM_003919.3(SGCE):c.825+12T>G
NM_003919.3(SGCE):c.825+17T>C
NM_003919.3(SGCE):c.825+19T>A rs777735591
NM_003919.3(SGCE):c.825+1G>T
NM_003919.3(SGCE):c.825+1_825+2del rs1554345052
NM_003919.3(SGCE):c.826-2A>G rs1554343985
NM_003919.3(SGCE):c.826-4T>G
NM_003919.3(SGCE):c.826-6T>C
NM_003919.3(SGCE):c.827T>C (p.Val276Ala)
NM_003919.3(SGCE):c.828T>G (p.Val276=)
NM_003919.3(SGCE):c.830A>C (p.Asp277Ala) rs1799105735
NM_003919.3(SGCE):c.831T>C (p.Asp277=)
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) rs863223283
NM_003919.3(SGCE):c.836C>T (p.Thr279Ile)
NM_003919.3(SGCE):c.837A>T (p.Thr279=)
NM_003919.3(SGCE):c.83C>T (p.Ala28Val)
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter) rs1562806242
NM_003919.3(SGCE):c.850del (p.Thr284fs) rs2116695873
NM_003919.3(SGCE):c.852C>G (p.Thr284=)
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer) rs2116695697
NM_003919.3(SGCE):c.868C>A (p.Arg290Ser) rs576417569
NM_003919.3(SGCE):c.868C>G (p.Arg290Gly)
NM_003919.3(SGCE):c.871G>A (p.Gly291Arg)
NM_003919.3(SGCE):c.874G>C (p.Glu292Gln) rs1799100104
NM_003919.3(SGCE):c.876G>A (p.Glu292=)
NM_003919.3(SGCE):c.880dup (p.Ile294fs) rs1562805960
NM_003919.3(SGCE):c.890A>G (p.Asp297Gly)
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter) rs765792098
NM_003919.3(SGCE):c.896dup (p.Glu300fs)
NM_003919.3(SGCE):c.898_925del (p.Glu300fs)
NM_003919.3(SGCE):c.89C>G (p.Thr30Ser)
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter) rs1322313531
NM_003919.3(SGCE):c.904_908dup (p.Pro304fs) rs2116694965
NM_003919.3(SGCE):c.906A>C (p.Lys302Asn)
NM_003919.3(SGCE):c.912T>G (p.Pro304=) rs1463065030
NM_003919.3(SGCE):c.927A>T (p.Lys309Asn)
NM_003919.3(SGCE):c.933A>C (p.Arg311Ser)
NM_003919.3(SGCE):c.938A>G (p.Tyr313Cys) rs1208881777
NM_003919.3(SGCE):c.941A>C (p.Tyr314Ser) rs1799081982
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter) rs2116694543
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter) rs2116694543
NM_003919.3(SGCE):c.943A>G (p.Thr315Ala) rs2116694516
NM_003919.3(SGCE):c.944C>T (p.Thr315Met)
NM_003919.3(SGCE):c.956T>C (p.Ile319Thr) rs1799078606
NM_003919.3(SGCE):c.961C>A (p.Leu321Met) rs1562805321
NM_003919.3(SGCE):c.962T>C (p.Leu321Pro) rs1799076594
NM_003919.3(SGCE):c.996T>C (p.Phe332=)
NM_003919.3(SGCE):c.998T>C (p.Leu333Pro)

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