ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Invitae

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
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HGVS dbSNP
NC_000023.10:g.(?_119562319)_(119603044_?)del
NC_000023.10:g.(?_133594322)_(133594415_?)del
NC_000023.10:g.(?_133594322)_(133634127_?)del
NC_000023.10:g.(?_133607369)_(133634127_?)del
NC_000023.10:g.(?_13753171)_(13762658_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_152954020)_(154096327_?)del
NC_000023.10:g.(?_152959340)_(153009209_?)del
NC_000023.10:g.(?_153005536)_(153005701_?)del
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153008431)_(153009199_?)del
NC_000023.10:g.(?_153008655)_(153009209_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_17393861)_(17653740_?)del
NC_000023.10:g.(?_17393861)_(17753592_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)del
NC_000023.10:g.(?_17710435)_(17710608_?)del
NC_000023.10:g.(?_18525053)_(18671684_?)del
NC_000023.10:g.(?_18582577)_(18600090_?)del
NC_000023.10:g.(?_38240575)_(38272343_?)del
NC_000023.10:g.(?_38260508)_(38260946_?)del
NC_000023.10:g.(?_39911342)_(39937202_?)del
NC_000023.10:g.(?_39916408)_(39937222_?)del
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_99551255)_(99663615_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
NM_000052.7(ATP7A):c.3294+1G>A
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.319-2A>G
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter)
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.418+1G>C
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
NM_000202.8(IDS):c.984del (p.Ile329fs)
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.342_342+4delAGTAA rs797045717
NM_000252.2(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.64-2A>G
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer)
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs)
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) rs1556345889
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs) rs1569335485
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs) rs1556016438
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs) rs1556016381
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs) rs1556016352
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs) rs1556016350
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs) rs1569335135
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs) rs1569334937
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs)
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
NM_001110556.2(FLNA):c.2565+1G>A
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001123383.1(BCOR):c.2858_2859del (p.Lys953fs)
NM_001123383.1(BCOR):c.3244dup (p.Tyr1082fs)
NM_001123383.1(BCOR):c.3388dup (p.Leu1130fs) rs1555915785
NM_001123383.1(BCOR):c.3410_3411del (p.Lys1137fs) rs1555915763
NM_001123383.1(BCOR):c.3463del (p.Asp1155fs)
NM_001123383.1(BCOR):c.3467del (p.Pro1156fs)
NM_001184880.1(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2617-1G>A
NM_001184880.2(PCDH19):c.2676-6A>G
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_002294.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.2(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.205_218del (p.His69fs)
NM_002294.2(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_002294.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.2(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_002294.2(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.2(LAMP2):c.864+3_864+6del rs397516751
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.2(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_003159.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_003159.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_003159.2(CDKL5):c.198_199TC[1] (p.Leu67fs) rs1555949011
NM_003159.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_003159.2(CDKL5):c.2326_2327del (p.Lys776fs)
NM_003159.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_003159.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_003159.2(CDKL5):c.2345C>G (p.Ser782Ter)
NM_003159.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_003159.2(CDKL5):c.2713+108del
NM_003159.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_003159.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer) rs1569190602
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) rs869320705
NM_004992.3(MECP2):c.104_107AGAA[1] (p.Glu37fs) rs267608426
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)
NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs) rs1555321206
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.500del (p.Glu167fs) rs1555321294
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter)
NM_005249.5(FOXG1):c.946del (p.Leu316fs) rs1555321380
NM_005249.5(FOXG1):c.982_989dup (p.Ser332fs)
NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs) rs1569539381
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter)
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) rs1569539443
NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter) rs1569539466
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.972_973CA[1] (p.Thr325fs) rs1060502808
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter)
NM_015185.3(ARHGEF9):c.865C>T (p.Arg289Ter) rs1135401795
NM_015185.3(ARHGEF9):c.901C>T (p.Gln301Ter) rs1569458475
NM_032335.3(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_198270.4(NHS):c.1117C>T (p.Arg373Ter) rs132630322
NM_198270.4(NHS):c.1399_1402del (p.Asp467fs) rs1556038355
NM_198270.4(NHS):c.2414G>A (p.Trp805Ter) rs1569319773
NM_198270.4(NHS):c.277G>T (p.Glu93Ter) rs1341004065
NM_198270.4(NHS):c.3595_3599del (p.Asn1199fs)
NM_198270.4(NHS):c.4093A>T (p.Lys1365Ter) rs1556039901
NM_198270.4(NHS):c.742C>T (p.Arg248Ter) rs1569310232
NM_198270.4(NHS):c.814C>T (p.Gln272Ter) rs1569310288
Single allele

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