ClinVar Miner

List of variants studied for anterior horn disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.737T>C (p.Val246Ala) rs10103355 0.87079
NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu) rs5763269 0.19153
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_005235.3(ERBB4):c.2202+15A>G rs77836647 0.02566
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) rs74740454 0.00531
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_001003800.2(BICD2):c.2258+15G>C rs140501870 0.00450
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_020919.4(ALS2):c.475G>A (p.Glu159Lys) rs3219155 0.00334
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_020919.4(ALS2):c.2842-20C>T rs189282198 0.00288
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_004082.5(DCTN1):c.2761-18C>T rs549475401 0.00209
NM_001376.5(DYNC1H1):c.10414-13G>A rs17541421 0.00190
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839 0.00183
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_177924.5(ASAH1):c.*103G>A rs181616268 0.00086
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00072
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467 0.00044
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_207346.3(TSEN54):c.1136G>A (p.Arg379Gln) rs201948434 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_177924.5(ASAH1):c.1041+19C>A rs17126194 0.00037
NM_004960.4(FUS):c.336-19_336-18insG rs146048051 0.00036
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) rs199785411 0.00030
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys) rs148976489 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter) rs776005417 0.00022
NM_177924.5(ASAH1):c.308G>C (p.Gly103Ala) rs144169068 0.00022
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_177924.5(ASAH1):c.718A>C (p.Ile240Leu) rs374187681 0.00019
NM_004082.5(DCTN1):c.3029+19G>A rs201665169 0.00018
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys) rs199920965 0.00016
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_207346.3(TSEN54):c.946C>T (p.Arg316Cys) rs377207901 0.00014
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_025265.4(TSEN2):c.653C>T (p.Pro218Leu) rs201214741 0.00011
NM_177924.5(ASAH1):c.-219A>T rs539981182 0.00011
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_001003800.2(BICD2):c.1401C>T (p.His467=) rs144442734 0.00009
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194 0.00009
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) rs199864231 0.00009
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) rs187925143 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) rs199751168 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_000454.5(SOD1):c.14C>T (p.Ala5Val) rs121912442 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_025137.4(SPG11):c.1348dup (p.Ile450fs) rs312262725 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_018325.5(C9orf72):c.1285T>C (p.Ser429Pro) rs200703028 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.2377G>A (p.Val793Met) rs546601155 0.00003
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) rs1006065298 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val) rs775825001 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) rs747732980 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) rs781051642 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_177924.5(ASAH1):c.784A>T (p.Ser262Cys) rs781103974 0.00002
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381 0.00001
NM_001540.5(HSPB1):c.142G>A (p.Gly48Ser) rs546699221 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu) rs764622721 0.00001
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val) rs1351029450 0.00001
NM_025137.4(SPG11):c.3663C>A (p.Ile1221=) rs1388337783 0.00001
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs) rs1459810136 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775 0.00001
NM_025137.4(SPG11):c.6458G>T (p.Ser2153Ile) rs543344637 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025265.4(TSEN2):c.431A>G (p.Asn144Ser) rs778603443 0.00001
NM_177924.5(ASAH1):c.1169A>G (p.Asp390Gly) rs373012279 0.00001
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter) rs769683272 0.00001
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys) rs371666412 0.00001
NM_207346.3(TSEN54):c.1186C>T (p.Arg396Trp) rs542013784 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551
NM_001008212.2(OPTN):c.402C>A (p.Ala134=) rs113955718
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr) rs1555411400
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile) rs1818621543
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp) rs754712755
NM_001376.5(DYNC1H1):c.13515+19dup rs774180410
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.3015+18C>G rs2749894
NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met) rs751865408
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly) rs773630385
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>T rs773101138
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile) rs1060502836
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) rs794727029
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004960.4(FUS):c.518_523del
NM_004960.4(FUS):c.524-13dup rs755045476
NM_005235.3(ERBB4):c.1947-28dup rs57466272
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) rs140172586
NM_013254.4(TBK1):c.541-9del rs369498196
NM_013254.4(TBK1):c.541-9dup rs369498196
NM_014845.6(FIG4):c.447-16delinsTT rs1776038653
NM_014845.6(FIG4):c.447-17dup rs764540259
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) rs752082832
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) rs776438003
NM_016955.5(SEPSECS):c.808dup rs776969714
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter) rs369577952
NM_020919.4(ALS2):c.2170+19T>C rs2106050526
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter) rs863225293
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_025137.4(SPG11):c.1347_1348inv (p.Ile450Val)
NM_025137.4(SPG11):c.2445-32dup rs374899647
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs) rs587777921
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.5866_5866+4del rs771346977
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs) rs312262782
NM_025137.4(SPG11):c.6754+2_6754+3dup rs759090170
NM_031157.4(HNRNPA1):c.491-3dup rs202119045
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile) rs966267709
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) rs371332103
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr) rs200758704
NM_181503.3(EXOSC8):c.55-10_55-9del rs144158336
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr) rs1568003520

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