ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_003805.5(CRADD):c.509G>A (p.Arg170His) rs141179774 0.00053
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00010
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg) rs748436953 0.00006
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter) rs904572688 0.00003
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter) rs374645146 0.00003
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys) rs542184779 0.00002
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter) rs184887106 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_006618.5(KDM5B):c.1834C>T (p.Arg612Ter) rs777362026 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln) rs371310428 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter) rs149644940 0.00001
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter) rs1163046936 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter) rs769471341 0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys) rs766478634 0.00001
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met) rs1201878175 0.00001
NM_006618.5(KDM5B):c.1321C>T (p.Arg441Ter) rs527951173 0.00001
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter) rs1287727763 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter) rs1251881194 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855 0.00001
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter) rs1164484724 0.00001
NM_017721.5(CC2D1A):c.511_513+1del rs777057767 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 0.00001
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro) rs1565312540 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
GRCh38/hg38 8q24.3(chr8:139729118-139736310)x1
NC_000014.8:g.(?_97319190)_(97325994_?)del
NM_001040616.3(LINS1):c.1222+2T>C
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs) rs2141262985
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs) rs2141261531
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
NM_001040616.3(LINS1):c.2134del (p.Arg711_Ile712insTer)
NM_001040616.3(LINS1):c.2185A>T (p.Lys729Ter)
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) rs1383641417
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040616.3(LINS1):c.490-1G>C rs768006727
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs) rs747412555
NM_001040616.3(LINS1):c.597del (p.Glu200fs) rs1198074890
NM_001040616.3(LINS1):c.631+1G>A
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter) rs1596891223
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys) rs1057519019
NM_001080510.5(METTL23):c.126del (p.Lys42fs) rs2143866789
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter) rs2145578013
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter) rs751298016
NM_001136035.4(TRMT1):c.1584-834_1584-2del
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter) rs2019344087
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs) rs750785552
NM_001136035.4(TRMT1):c.311-1G>A rs2019322057
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs) rs868289171
NM_001136035.4(TRMT1):c.691G>A (p.Asp231Asn)
NM_001160372.4(TRAPPC9):c.122_123del (p.Val41fs)
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.287-2A>G
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.3dup (p.Pro2fs)
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter) rs762979613
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.812T>C (p.Val271Ala) rs2139804166
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.882del (p.Asn294fs)
NM_003384.3(VRK1):c.883_886del (p.Lys295fs) rs779282547
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_003754.3(EIF3F):c.181C>T (p.Gln61Ter)
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu) rs1185010700
NM_003805.5(CRADD):c.285dup (p.Asp96fs) rs1555213545
NM_003805.5(CRADD):c.393G>A (p.Trp131Ter)
NM_003805.5(CRADD):c.50del (p.Gly17fs) rs1207931375
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) rs1775982467
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) rs760262127
NM_004830.4(MED23):c.3145del (p.Tyr1048_Leu1049insTer)
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_004830.4(MED23):c.479T>C (p.Leu160Pro) rs786205583
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter) rs1308325707
NM_005645.4(TAF13):c.204+1G>T rs2102105455
NM_005883.3(APC2):c.409del (p.Glu137fs)
NM_005883.3(APC2):c.6184_6193del (p.Pro2062fs)
NM_005883.3(APC2):c.797dup (p.Gln267fs)
NM_006618.5(KDM5B):c.1520C>G (p.Ser507Ter)
NM_006618.5(KDM5B):c.1701+1G>T
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
NM_006618.5(KDM5B):c.2589+1G>A
NM_006618.5(KDM5B):c.2945+1G>A rs2102232815
NM_006618.5(KDM5B):c.3139C>T (p.Arg1047Ter)
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
NM_006618.5(KDM5B):c.3640C>T (p.Arg1214Ter)
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs) rs1572705473
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006618.5(KDM5B):c.4132C>T (p.Gln1378Ter)
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
NM_006721.4(ADK):c.-10_4del (p.Met1fs)
NM_006721.4(ADK):c.1031C>T (p.Ala344Val) rs1589387419
NM_006721.4(ADK):c.2T>C (p.Met1Thr)
NM_006721.4(ADK):c.569_570del (p.Thr190fs)
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
NM_006721.4(ADK):c.813dup (p.Asn272fs) rs1589286482
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
NM_006765.4(TUSC3):c.327T>A (p.Tyr109Ter)
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_006765.4(TUSC3):c.568-2A>G rs2129179995
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006828.4(ASCC3):c.1597-2A>G
NM_006828.4(ASCC3):c.802-2A>C
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_014026.6(DCPS):c.201+1G>T
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
NM_014168.4(METTL5):c.196dup (p.Ser66fs)
NM_014168.4(METTL5):c.225-1G>T
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
NM_014168.4(METTL5):c.541+1G>C rs1467526653
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)
NM_014704.4(CEP104):c.2088_2091del (p.Glu697fs)
NM_014704.4(CEP104):c.2151+2T>C
NM_014704.4(CEP104):c.2188+1G>T
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
NM_014704.4(CEP104):c.2361del (p.Lys787fs)
NM_014704.4(CEP104):c.2365-2A>G
NM_014704.4(CEP104):c.735+1G>T
NM_014704.4(CEP104):c.808A>T (p.Lys270Ter)
NM_014704.4(CEP104):c.895C>T (p.Arg299Ter)
NM_014704.4(CEP104):c.968C>G (p.Ser323Ter)
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) rs765514069
NM_015275.3(WASHC4):c.1038+1G>T rs1881282106
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
NM_015275.3(WASHC4):c.1786C>T (p.Arg596Ter)
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
NM_015981.4(CAMK2A):c.290T>C (p.Leu97Pro)
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.325-1G>A
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.394dup (p.Asp132fs)
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.460del (p.Arg154fs)
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016042.4(EXOSC3):c.624_626+1del rs769374744
NM_016042.4(EXOSC3):c.627-1G>C
NM_016042.4(EXOSC3):c.638_639del (p.Pro213fs)
NM_016042.4(EXOSC3):c.672_673del (p.Tyr225fs)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016100.5(NAA20):c.160A>G (p.Met54Val) rs2146464332
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
NM_016219.5(MAN1B1):c.1373del (p.Leu458fs)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
NM_016219.5(MAN1B1):c.2072A>G (p.His691Arg)
NM_016219.5(MAN1B1):c.219+1G>A rs2130983856
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_016219.5(MAN1B1):c.349del (p.Glu117fs)
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.730+1G>A
NM_016219.5(MAN1B1):c.917-2_921del
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter) rs1575094649
NM_017721.5(CC2D1A):c.1061dup (p.Arg355fs)
NM_017721.5(CC2D1A):c.1117_1121dup (p.Lys374fs)
NM_017721.5(CC2D1A):c.1403C>G (p.Ser468Ter)
NM_017721.5(CC2D1A):c.1468+1G>C
NM_017721.5(CC2D1A):c.1528C>T (p.Arg510Ter)
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs) rs1971392241
NM_017721.5(CC2D1A):c.179_180insCA (p.Glu60fs)
NM_017721.5(CC2D1A):c.2710+1G>A
NM_017721.5(CC2D1A):c.2711-2A>G
NM_017721.5(CC2D1A):c.61-2A>G
NM_017721.5(CC2D1A):c.959dup (p.Asp321fs)
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter) rs1377452635
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs) rs762288077
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp) rs1403893283
NM_017755.6(NSUN2):c.1914dup (p.Arg639Ter)
NM_017755.6(NSUN2):c.37C>T (p.Gln13Ter)
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs) rs1579377990
NM_017755.6(NSUN2):c.569dup (p.Thr191fs)
NM_017755.6(NSUN2):c.62_65dup (p.Ala23fs) rs1041431561
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter) rs868442196
NM_017755.6(NSUN2):c.839dup (p.Asn280fs) rs1579370234
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter) rs1426355851
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe) rs757511770
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) rs1943353362
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
NM_020374.4(FERRY3):c.527_528del (p.Lys176fs)
NM_021937.5(EEFSEC):c.1169A>C (p.Asp390Ala)
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter) rs2076017638
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs) rs2076013475
NM_024298.5(MBOAT7):c.1148_1166dup (p.Gly390fs)
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs) rs886041058
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter) rs2076508722
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024298.5(MBOAT7):c.493+1G>T
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs) rs1264222654
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys) rs868498080
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs) rs2146989146
NM_024735.5(FBXO31):c.842+1G>A
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His) rs773649192
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
NM_138775.3(ALKBH8):c.1182G>A (p.Trp394Ter)
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter) rs375189195
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
NM_145886.4(PIDD1):c.1302+1G>A
NM_145886.4(PIDD1):c.296-1G>A
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075

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