ClinVar Miner

List of variants reported as likely pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 315
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HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:29656684-30197341)
GRCh37/hg19 16q24.3(chr16:89616901-89620368)
GRCh37/hg19 19p13.3(chr19:259395-3152419)
GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)
GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)
NC_012920.1:m.14598T>C rs1057518882
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000021.3(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.1866-1G>C rs1557055311
NM_000043.5(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000053.3(ATP7B):c.2963G>A (p.Gly988Glu) rs1057518867
NM_000053.3(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000070.2(CAPN3):c.632+5G>A rs1555420508
NM_000083.2(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.2(CLCN1):c.1662_1663dup (p.His555Leufs) rs1554438441
NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000084.4(CLCN5):c.1341del (p.Met448Terfs) rs1557194090
NM_000085.4(CLCNKB):c.937_940dup (p.Arg314Lysfs) rs779593707
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000091.4(COL4A3):c.3546_3548dup (p.Gly1183_Asn1184insGly) rs1175052474
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000093.4(COL5A1):c.2903delC (p.Pro968Leufs) rs1057518871
NM_000093.4(COL5A1):c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) rs1554726245
NM_000093.4(COL5A1):c.608G>T (p.Gly203Val) rs1554781700
NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) rs147040026
NM_000094.3(COL7A1):c.8047G>A (p.Gly2683Ser) rs1057518863
NM_000098.2(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000123.3(ERCC5):c.2929_2930del (p.Leu977Valfs) rs1057518813
NM_000124.3(ERCC6):c.1589T>C (p.Leu530Pro) rs1057518910
NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe) rs1057518881
NM_000138.4(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys) rs1057518809
NM_000138.4(FBN1):c.7829A>G (p.Glu2610Gly) rs1555393889
NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp) rs1057518883
NM_000141.4(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000143.3(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000153.3(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000153.3(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000161.2(GCH1):c.655C>T (p.Gln219Ter) rs1555358382
NM_000165.5(GJA1):c.486G>C (p.Lys162Asn) rs1057518960
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000190.3(HMBS):c.958delG (p.Ala320Leufs) rs1057518806
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000212.2(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.2(ITGB3):c.749A>G (p.Asp250Gly) rs1057518838
NM_000226.3(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000257.3(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.3(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.3(MYH7):c.5560-2A>C
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000266.3(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.3(NDP):c.308_311dup (p.Lys104Asnfs) rs1555976049
NM_000266.3(NDP):c.314C>T (p.Ala105Val) rs1057518836
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.5750-1G>A rs1057518974
NM_000267.3(NF1):c.616_617insGG (p.Lys206Argfs) rs1555608663
NM_000267.3(NF1):c.68delT (p.Ile23Lysfs) rs1057518884
NM_000271.4(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
NM_000271.4(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000273.2(GPR143):c.12_36delGCGCCTAGGGACCTTCTGCTGCCCC (p.Leu6Glyfs) rs1057518787
NM_000274.3(OAT):c.875A>G (p.Lys292Arg) rs1057518927
NM_000275.2(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000296.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_000296.3(PKD1):c.4846G>T (p.Glu1616Ter) rs566014072
NM_000296.3(PKD1):c.9185T>A (p.Val3062Asp) rs1057518856
NM_000314.6(PTEN):c.277C>A (p.His93Asn) rs786204927
NM_000322.4(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000350.2(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.2(ABCA4):c.688T>A (p.Cys230Ser) rs1057518767
NM_000352.4(ABCC8):c.1024G>T (p.Gly342Trp) rs763028380
NM_000352.4(ABCC8):c.1793G>A (p.Arg598Gln) rs1344172059
NM_000352.4(ABCC8):c.3517G>A (p.Val1173Met) rs141322087
NM_000368.4(TSC1):c.658delG (p.Val220Serfs) rs1057518945
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.4(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000388.3(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000390.3(CHM):c.75_77del (p.Ala26del) rs1555968874
NM_000393.4(COL5A2):c.754G>T (p.Gly252Cys) rs1553517323
NM_000400.3(ERCC2):c.1703_1704delTT (p.Phe568Tyrfs) rs587778271
NM_000432.3(MYL2):c.193G>A (p.Glu65Lys) rs397516398
NM_000435.2(NOTCH3):c.1450T>G (p.Cys484Gly) rs1555728965
NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000441.1(SLC26A4):c.1693T>G (p.Cys565Gly) rs767255075
NM_000441.1(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810
NM_000455.4(STK11):c.856_858delCTG (p.Leu286del) rs1057518830
NM_000462.5(UBE3A):c.2513_2525dup (p.Cys843Tyrfs) rs1057518777
NM_000489.4(ATRX):c.5026G>T (p.Gly1676Cys) rs1557106484
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000495.4(COL4A5):c.4888dup (p.Ile1630Asnfs) rs1556463583
NM_000525.3(KCNJ11):c.185C>G (p.Thr62Arg) rs1057518775
NM_000530.6(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.7(MPZ):c.699T>G (p.Ser233Arg) rs1057518839
NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys) rs774919231
NM_000540.2(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.2(RYR1):c.1990G>C (p.Glu664Gln) rs1555769818
NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786
NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) rs1057518970
NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.2(RYR1):c.9850T>C (p.Trp3284Arg) rs1555788577
NM_000548.4(TSC2):c.886G>A (p.Val296Met) rs747237113
NM_000550.2(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.2(TYRP1):c.670C>T (p.His224Tyr) rs1057518841
NM_000553.5(WRN):c.724+1G>T rs1339616347
NM_000751.2(CHRND):c.1385G>T (p.Trp462Leu) rs1057518957
NM_000751.2(CHRND):c.822delT (p.Ser274Argfs) rs1057518958
NM_000802.3(FOLR1):c.287G>A (p.Cys96Tyr) rs1057518816
NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg) rs1555103652
NM_000834.4(GRIN2B):c.2225G>T (p.Arg742Ile) rs1555103646
NM_000834.4(GRIN2B):c.2395G>A (p.Gly799Ser) rs1057518800
NM_000883.3(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001009944.2(PKD1):c.11524T>C (p.Trp3842Arg) rs1057518959
NM_001009944.2(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.2(PKD1):c.6877C>T (p.Pro2293Ser) rs1383657728
NM_001009944.2(PKD1):c.7570_7572delGAG (p.Glu2524del) rs1555452876
NM_001018100.4(MYZAP):c.236C>A (p.Ser79Ter) rs992189342
NM_001030311.2(CERKL):c.677+3A>G rs1553515435
NM_001037343.1(CDKL5):c.1471_1472dupGC (p.Leu492Hisfs) rs1057518759
NM_001039348.2(EFEMP1):c.1189T>C (p.Tyr397His) rs1553348960
NM_001040113.1(MYH11):c.4381G>C (p.Asp1461His) rs1057518938
NM_001042492.2(NF1):c.2252-3T>G rs1057518842
NM_001042492.2(NF1):c.2410-1G>A rs1057518792
NM_001042492.2(NF1):c.4828dup (p.Ala1610Glyfs) rs1555619420
NM_001079821.2(NLRP3):c.1805A>G (p.Gln602Arg) rs1057518827
NM_001097642.2(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_001097642.2(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_001098209.1(CTNNB1):c.1876G>T (p.Glu626Ter) rs1553632357
NM_001099404.1(SCN5A):c.1255C>T (p.Gln419Ter) rs1057518916
NM_001110556.1(FLNA):c.5063T>G (p.Val1688Gly) rs1461148946
NM_001110556.1(FLNA):c.7023+4A>T rs1557175789
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5422G>T (p.Ala1808Ser) rs1555736565
NM_001127698.1(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001136504.1(SYT2):c.1084_1089delTATGAC (p.Tyr362_Asp363del) rs1057518805
NM_001142301.1(TMEM67):c.2175_2180dup (p.Asn727_Leu728insMetAsn) rs1554558365
NM_001151.3(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001165963.2(SCN1A):c.974_976delATT (p.Tyr325del) rs1553548194
NM_001166111.1(PNPLA6):c.4075C>T (p.Arg1359Trp) rs374434303
NM_001166111.1(PNPLA6):c.925C>G (p.Pro309Ala) rs1057518936
NM_001172509.1(SATB2):c.1990C>T (p.Gln664Ter) rs1553538917
NM_001199799.1(ILDR1):c.745delT (p.Ser249Hisfs) rs571007078
NM_001206744.1(TPO):c.1558C>T (p.His520Tyr) rs1057518950
NM_001244008.1(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244810.1(FOXP1):c.1396C>G (p.Pro466Ala) rs1057518926
NM_001256850.1(TTN):c.102712C>T (p.Gln34238Ter) rs757082154
NM_001267550.2(TTN):c.103360delG (p.Glu34454Asnfs) rs760768093
NM_001267550.2(TTN):c.35265dup (p.Pro11756Thrfs) rs1198364572
NM_001270447.1(ACADVL):c.1427G>A (p.Arg476Gln) rs138058572
NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001282717.1(STAG3):c.2776C>T (p.Arg926Ter) rs764841861
NM_001288739.1(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_001298.2(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.2(CNGA3):c.829C>T (p.Arg277Cys) rs104893620
NM_001298.2(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_001360.2(DHCR7):c.655T>C (p.Tyr219His) rs779896782
NM_001376.4(DYNC1H1):c.1802T>A (p.Ile601Asn) rs1057518776
NM_001376.4(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.4(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.4(DYNC1H1):c.829T>G (p.Phe277Val) rs1057518935
NM_001390.4(DTNA):c.177A>G (p.Ile59Met) rs1057518968
NM_001451.2(FOXF1):c.280A>T (p.Asn94Tyr) rs1057518868
NM_001844.4(COL2A1):c.1916G>A (p.Gly639Asp) rs1057518908
NM_001844.4(COL2A1):c.3472G>C (p.Gly1158Arg) rs1057518911
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001849.3(COL6A2):c.736-2A>G rs1057518925
NM_001942.3(DSG1):c.1176T>G (p.Tyr392Ter) rs761241711
NM_001942.3(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_002024.5(FMR1):c.199-2A>G rs1057518850
NM_002055.4(GFAP):c.1046A>C (p.Tyr349Ser) rs1057518828
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002296.3(LBR):c.1747C>T (p.Arg583Ter) rs1057516045
NM_002465.3(MYBPC1):c.1678G>C (p.Val560Leu) rs1555242493
NM_002473.5(MYH9):c.4271A>G (p.Asp1424Gly) rs867593888
NM_002547.2(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_003172.3(SURF1):c.751+5G>A rs781934508
NM_003482.3(KMT2D):c.10882C>G (p.Leu3628Val) rs773395827
NM_003688.3(CASK):c.2221+1delinsAT rs1555975523
NM_003688.3(CASK):c.2506-2A>G rs398122845
NM_003990.4(PAX2):c.213-1_225del rs1057518761
NM_003995.3(NPR2):c.2162_2172delGTGGTCCTTTC (p.Ser721Ilefs) rs1057518817
NM_003995.3(NPR2):c.779A>T (p.Glu260Val) rs757744435
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.177delG (p.Gln60Lysfs) rs1057518834
NM_004006.2(DMD):c.357+1G>A rs1557058294
NM_004006.2(DMD):c.7319dup (p.Thr2441Aspfs) rs1556880327
NM_004208.3(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.3(AIFM1):c.1646C>T (p.Ala549Val) rs761953453
NM_004247.3(EFTUD2):c.2047A>T (p.Asn683Tyr) rs1057518932
NM_004333.5(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.5(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004380.2(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004380.2(CREBBP):c.6185_6195delTCTCACCCAGC (p.Ile2062Serfs) rs1555471098
NM_004380.2(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.3(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289
NM_004572.3(PKP2):c.269_272delTACA (p.Leu90Profs) rs397517025
NM_004586.2(RPS6KA3):c.533C>G (p.Ala178Gly) rs1057518914
NM_004912.4(KRIT1):c.990-1G>A rs1554518790
NM_004975.2(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_005022.3(PFN1):c.341T>G (p.Met114Arg) rs387907265
NM_005055.4(RAPSN):c.490C>T (p.Arg164Cys) rs104894294
NM_005120.2(MED12):c.4342G>A (p.Gly1448Arg) rs1057518921
NM_005135.2(SLC12A6):c.599dup (p.Ser201Leufs) rs1555380716
NM_005183.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_005220.2(DLX3):c.574dupG (p.Glu192Glyfs) rs1057518764
NM_005249.4(FOXG1):c.1067delT (p.Phe356Serfs) rs1555321402
NM_005360.4(MAF):c.188C>G (p.Pro63Arg) rs1057518878
NM_005465.4(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005592.3(MUSK):c.1724T>C (p.Ile575Thr) rs751889864
NM_005592.3(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005629.3(SLC6A8):c.1208C>T (p.Ala403Val) rs1557045296
NM_005902.3(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_006015.5(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006516.3(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006517.4(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006623.3(PHGDH):c.290+2T>C rs886041874
NM_006623.3(PHGDH):c.374C>T (p.Thr125Met) rs764618040
NM_006772.2(SYNGAP1):c.1697_1700dup (p.Val568Glyfs) rs1554121671
NM_006772.2(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.2(SYNGAP1):c.2115G>A (p.Lys705=) rs1057518786
NM_006772.2(SYNGAP1):c.3200delC (p.Pro1067Hisfs) rs1057518796
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006846.3(SPINK5):c.1431-12G>A rs368134354
NM_006912.5(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006922.3(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006940.5(SOX5):c.482-2A>C rs1057518845
NM_006940.5(SOX5):c.904C>T (p.Pro302Ser) rs1057518928
NM_007272.2(CTRC):c.699_703delCATCG (p.Ile234Glnfs) rs1553134935
NM_012330.3(KAT6B):c.3399_3402delGGGT (p.Arg1133Serfs) rs1554844486
NM_012330.3(KAT6B):c.5213C>T (p.Thr1738Ile) rs1554846212
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_014112.4(TRPS1):c.1230G>A (p.Trp410Ter) rs1057518791
NM_014112.4(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014191.3(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) rs1057518873
NM_015093.5(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_015100.3(POGZ):c.402_409dupTGCCAATC (p.His137Leufs) rs1057518799
NM_015166.3(MLC1):c.178-10T>A rs80358243
NM_015311.2(OBSL1):c.690dup (p.Glu231Argfs) rs1553538488
NM_015339.4(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg) rs1555706928
NM_016038.2(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016239.3(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384
NM_016373.3(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.3(WWOX):c.918delG (p.Glu306Aspfs) rs1057518795
NM_016955.3(SEPSECS):c.388+5G>A rs1057518887
NM_017780.3(CHD7):c.2867C>A (p.Ser956Ter) rs367557471
NM_018486.2(HDAC8):c.584T>G (p.Val195Gly) rs1556009247
NM_018848.3(MKKS):c.958_959delCT (p.Leu320Aspfs) rs770908659
NM_018973.3(DPM3):c.227T>A (p.Leu76Gln) rs1057518905
NM_020366.3(RPGRIP1):c.2567_2568dup (p.Val857Leufs) rs1555302200
NM_020533.2(MCOLN1):c.378C>G (p.Tyr126Ter) rs1057518782
NM_020533.2(MCOLN1):c.777+1G>C rs1057518781
NM_020732.3(ARID1B):c.3444delC (p.Leu1149Cysfs) rs1057518918
NM_020919.3(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_020919.3(ALS2):c.4022G>A (p.Arg1341His) rs761291489
NM_021830.4(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022489.3(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_023035.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779
NM_024312.4(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024666.4(AAGAB):c.451+1G>T rs1057518846
NM_024757.4(EHMT1):c.1647+2T>C rs1057518913
NM_025114.3(CEP290):c.5710-3C>G rs1555202126
NM_025137.3(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.3(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_030582.3(COL18A1):c.1469-2A>G rs765919785
NM_030582.3(COL18A1):c.3559G>A (p.Gly1187Ser) rs1057518766
NM_030582.3(COL18A1):c.3979C>T (p.Arg1327Ter) rs1057518802
NM_032645.4(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_080629.2(COL11A1):c.4084_4101delTCTGGTGAGGCTGGCCCA (p.Ser1362_Pro1367del) rs1553200431
NM_080680.2(COL11A2):c.4430G>T (p.Gly1477Val) rs745434198
NM_133433.3(NIPBL):c.1810_1811delTC (p.Ser604Terfs) rs1057518944
NM_133433.3(NIPBL):c.6242G>C (p.Gly2081Ala) rs587784000
NM_139058.2(ARX):c.1579_1582delAGAC (p.Arg527Alafs) rs1057518794
NM_145860.1(PDCD10):c.474+5G>A rs1553759139
NM_152296.4(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368
NM_152416.3(NDUFAF6):c.841C>G (p.Pro281Ala) rs1224421127
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_170707.3(LMNA):c.130G>T (p.Val44Phe) rs1057518971
NM_172107.3(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172337.2(OTX2):c.167_169delTGTinsGG (p.Leu56Argfs) rs1555350397
NM_181789.3(GLDN):c.1305G>A (p.Trp435Ter) rs775011495
NM_182943.2(PLOD2):c.1361G>T (p.Gly454Val) rs778360818
NM_182943.2(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356
NM_194248.2(OTOF):c.2677-2A>G rs1057518840
NM_198056.2(SCN5A):c.1613delG (p.Gly538Valfs) rs1553704183
NM_198159.2(MITF):c.794A>G (p.Tyr265Cys) rs1057518765
NM_198309.3(TTC8):c.459G>A (p.Thr153=) rs119103286
NM_198525.2(KIF7):c.434A>C (p.Tyr145Ser) rs758361736
NM_206933.2(USH2A):c.6722C>A (p.Pro2241His) rs1057518826
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.2029+1_2029+2insT rs1057518855

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