ClinVar Miner

List of variants reported as likely pathogenic by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 313
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HGVS dbSNP
NC_000006.12:g.135105435A>G rs4895441
NC_012920.1:m.11467A>G rs2853493
NC_012920.1:m.12372G>A rs2853499
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000089.3(COL1A2):c.2405G>T (p.Gly802Val)
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000131.4(F7):c.1109G>T (p.Cys370Phe) rs121964927
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000157.4(GBA):c.104C>T (p.Ser35Leu) rs757041827
NM_000157.4(GBA):c.1495G>C (p.Val499Leu) rs369068553
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000170.2(GLDC):c.1100C>T (p.Thr367Ile) rs1183976692
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) rs1554517725
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000257.4(MYH7):c.2335G>C (p.Glu779Gln)
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3985dup (p.Leu1329fs) rs1566526391
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261
NM_000263.4(NAGLU):c.532_533GT[1] (p.Tyr179fs) rs1567891258
NM_000266.4(NDP):c.200G>T (p.Gly67Val) rs1460859456
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398
NM_000327.3(ROM1):c.859C>T (p.Arg287Trp) rs768652143
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000352.5(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.5(ABCC8):c.4051G>A (p.Val1351Met)
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) rs781168584
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000456.3(SUOX):c.1376G>A (p.Arg459Gln)
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000525.3(KCNJ11):c.368dup (p.Ser124fs) rs1554901822
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396
NM_000817.3(GAD1):c.1672C>T (p.Pro558Ser) rs774953382
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_001001547.3(CD36):c.784dup (p.Gln262fs) rs766920034
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001017989.3(OPA3):c.143-24384A>G rs1382779104
NM_001029896.2(WDR45):c.655_656CT[1] (p.Leu219_Phe220insTer) rs1569523468
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447
NM_001080432.3(FTO):c.263A>G (p.Lys88Arg) rs1410999299
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001080522.2(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001080522.2(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001083116.3(PRF1):c.1175del (p.Pro392fs) rs1554867753
NM_001101362.2(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101426.4(CRPPA):c.1105_1107GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001123383.1(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001127221.1(CACNA1A):c.4177G>A (p.Val1393Met) rs794727411
NM_001128425.1(MUTYH):c.1147del (p.Ala385fs) rs587778536
NM_001130987.2(DYSF):c.2864+1G>A rs199954546
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001137601.3(ZBTB42):c.1031C>T (p.Ser344Leu) rs1368607213
NM_001139.3(ALOX12B):c.353-2A>G rs775524204
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001142771.2(PCDH15):c.4816dup (p.Met1606fs) rs766484375
NM_001146040.2(GLRA1):c.252+2T>C rs1554085893
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904
NM_001163435.3(TBCK):c.360_363del (p.His120fs) rs1560929669
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr) rs748362724
NM_001184832.2(SLC12A1):c.668C>T (p.Thr223Met) rs377680472
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn) rs760130069
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001231.5(CASQ1):c.1018G>A (p.Asp340Asn) rs749145120
NM_001256047.1(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_001267550.2(TTN):c.11311+5023dup
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001318245.2(MYO18B):c.5041dup (p.Glu1681fs) rs1569172839
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955
NM_001330195.2(NRXN3):c.4442G>A (p.Arg1481Gln) rs768341004
NM_001348803.2(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419
NM_001360.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001370595.1(COA8):c.41dup (p.Leu15fs)
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr) rs1554350554
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) rs775268226
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001849.3(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) rs1422176468
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_002016.1(FLG):c.8885del (p.Gln2962fs)
NM_002087.3(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375
NM_002139.4(RBMX):c.389-8T>C rs181515589
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr) rs1554406824
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile) rs1554402678
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr)
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys) rs1555525264
NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) rs764287987
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002973.4(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853
NM_002977.3(SCN9A):c.347_349GAA[1] (p.Arg117del)
NM_003060.4(SLC22A5):c.394-141T>C rs1561566541
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs)
NM_003193.5(TBCE):c.332T>G (p.Val111Gly) rs1553336397
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.1743-1G>C rs1555979401
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) rs1569264087
NM_003673.3(TCAP):c.1A>G (p.Met1Val) rs1567864804
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_004006.2(DMD):c.1000T>A (p.Leu334Met) rs1280415176
NM_004006.2(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797
NM_004268.5(MED17):c.1898G>A (p.Arg633Gln) rs1356392449
NM_004273.5(CHST3):c.680C>G (p.Ser227Cys) rs1554817549
NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp) rs778224699
NM_004321.7(KIF1A):c.2543G>A (p.Arg848Gln) rs1195594601
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004369.3(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017
NM_004369.3(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277
NM_004453.4(ETFDH):c.1325C>T (p.Ser442Leu) rs1442766122
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004667.5(HERC2):c.7701_7702GA[5] (p.Asn2570fs)
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.378-3C>T rs267608465
NM_005013.2(NUCB2):c.-406C>G rs214088
NM_005051.3(QARS1):c.2085-3C>A rs1024765171
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_005105.4(RBM8A):c.67+32G>C rs201779890
NM_005216.4(DDOST):c.696G>C (p.Gln232His) rs867045420
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter) rs369494682
NM_005272.4(GNAT2):c.481C>T (p.Arg161Ter) rs745308973
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr) rs1555656402
NM_005559.4(LAMA1):c.2663G>T (p.Gly888Val) rs1555654766
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) rs781767219
NM_005609.4(PYGM):c.1044del (p.Glu349fs)
NM_005866.4(SIGMAR1):c.416G>T (p.Gly139Val) rs1270528470
NM_005957.4(MTHFR):c.1163G>A (p.Arg388His) rs769953411
NM_005957.4(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) rs1560137609
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly) rs1553340826
NM_006306.3(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006343.3(MERTK):c.584-1G>T rs1553449458
NM_006348.3(COG5):c.18_19insGGGCC (p.Arg7fs)
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006920.6(SCN1A):c.2010+10G>C
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) rs1554770589
NM_007347.5(AP4E1):c.2232_2233TA[3] (p.Thr746Ter) rs1555462184
NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_012470.3(TNPO3):c.2768G>A (p.Arg923Gln) rs750548861
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) rs1554596418
NM_014191.4(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688
NM_014191.4(SCN8A):c.618T>A (p.Tyr206Ter) rs1490133991
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu) rs1553501873
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.334G>A (p.Val112Met)
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_015548.5(DST):c.3319-3501G>A rs1330945347
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359
NM_015665.6(AAAS):c.936_937del (p.Val313Leufs)
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851
NM_015915.4(ATL1):c.1111dup (p.Met371fs)
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_017565.4(FAM20A):c.885del (p.Thr296fs) rs1568724130
NM_017636.4(TRPM4):c.1150+1G>A rs200132598
NM_017654.4(SAMD9):c.2159del (p.Asn720fs) rs753146043
NM_017882.3(CLN6):c.297+113G>C rs553192210
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017890.4(VPS13B):c.10360dup (p.Leu3454fs) rs1563509743
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018389.4(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)
NM_021023.5(CFHR3):c.803G>T (p.Cys268Phe) rs745503234
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
NM_022068.3(PIEZO2):c.7144C>T (p.Arg2382Trp) rs757200280
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022455.4(NSD1):c.1085G>A (p.Arg362Gln) rs769733603
NM_022893.4(BCL11A):c.386-24278G>A rs11886868
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118
NM_024996.5(GFM1):c.395A>C (p.Glu132Ala) rs1553847587
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_031372.3(HNRNPDL):c.1012C>T (p.Arg338Cys) rs1553900864
NM_032383.5(HPS3):c.2737_2738GA[1] (p.Glu913fs) rs1277509410
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) rs140470862
NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter) rs1555379886
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_080679.2(COL11A2):c.2433del (p.Gly812fs) rs1562336726
NM_133379.5(TTN):c.1800+1G>A rs397517497
NM_138691.2(TMC1):c.236+1G>A rs775428246
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_152281.2(GORAB):c.724T>C (p.Tyr242His) rs749490786
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_172107.3(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_176787.5(PIGN):c.1240T>A (p.Phe414Ile) rs548412299
NM_176787.5(PIGN):c.310G>C (p.Gly104Arg) rs1555696900
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182914.2(SYNE2):c.12609+1G>T rs745516407
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203330.2(CD59):c.190T>G (p.Cys64Gly) rs1554939509
NM_207118.2(GTF2H5):c.36-2A>G
NM_207391.3(RGS9BP):c.365C>G (p.Ser122Cys) rs749927570

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