ClinVar Miner

List of variants reported as likely pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) rs151141842 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_004608.4(TBX6):c.356G>A (p.Arg119His) rs200175825 0.00007
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter) rs201180239 0.00006
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_178857.6(RP1L1):c.328C>T (p.Pro110Ser) rs773440242 0.00005
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_002292.4(LAMB2):c.2809C>T (p.Arg937Trp) rs745926869 0.00004
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys) rs765338121 0.00004
NM_000092.5(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_001080442.3(SLC38A8):c.806-3C>G rs1057516193 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00003
NM_020041.3(SLC2A9):c.1343C>T (p.Pro448Leu) rs372201423 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466 0.00002
NM_000092.5(COL4A4):c.481G>C (p.Gly161Arg) rs755961411 0.00002
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg) rs200529020 0.00002
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln) rs567175477 0.00002
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249 0.00001
NM_000091.5(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437 0.00001
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala) rs1559594442 0.00001
NM_000092.5(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_000451.4(SHOX):c.479G>A (p.Arg160His) rs1159449478 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu) rs1197105310 0.00001
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) rs780873164 0.00001
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr) rs368581522 0.00001
NM_002292.4(LAMB2):c.240T>G (p.Ser80Arg) rs746230397 0.00001
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter) rs763991433 0.00001
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225 0.00001
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) rs759055242 0.00001
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162 0.00001
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter) rs775612958 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter) rs771262904 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_000037.4(ANK1):c.4051del (p.Asp1351fs) rs1586114714
NM_000045.4(ARG1):c.30del (p.Ile11fs) rs1773467460
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000064.4(C3):c.2061dup (p.Lys688fs) rs1599518940
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser) rs1907108266
NM_000088.4(COL1A1):c.2586del (p.Gly863fs) rs1598289920
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.5(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.5(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu) rs1574699806
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.5(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.5(COL4A4):c.2160_2163dup (p.Gly722fs) rs1976595425
NM_000092.5(COL4A4):c.2402G>T (p.Gly801Val) rs200814061
NM_000092.5(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.5(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.5(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.5(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.5(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.5(COL4A4):c.710del (p.Gly237fs) rs2060994755
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg) rs2060994526
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn) rs1970720537
NM_000162.5(GCK):c.371A>T (p.Asp124Val) rs1554335612
NM_000180.4(GUCY2D):c.1040_1041del (p.Phe347fs) rs763890649
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) rs61750174
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs) rs1848613169
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000256.3(MYBPC3):c.3620del (p.Ser1207fs) rs2095878223
NM_000256.3(MYBPC3):c.519del (p.Phe174fs) rs1595849742
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_000274.4(OAT):c.980C>G (p.Pro327Arg) rs1589698958
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000278.5(PAX2):c.220del (p.Glu74fs) rs1589813539
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000297.4(PKD2):c.1390del (p.Arg464fs) rs1727786451
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) rs1578118371
NM_000321.3(RB1):c.1002del (p.Arg334fs) rs1593448449
NM_000321.3(RB1):c.1696-2A>G rs1593529868
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter) rs750136284
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg) rs1554269071
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr) rs1800114220
NM_000322.5(PRPH2):c.829-1G>A rs1582759782
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) rs1570393848
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro) rs767729255
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg) rs886039877
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr) rs2074897929
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) rs1363412937
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000424.4(KRT5):c.1394T>G (p.Val465Gly) rs1555156076
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser) rs1570276921
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000527.5(LDLR):c.463T>A (p.Cys155Ser) rs879254535
NM_000537.4(REN):c.47T>A (p.Leu16His) rs121917743
NM_000539.3(RHO):c.328T>G (p.Cys110Gly) rs1578278438
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000548.5(TSC2):c.1565_1566del (p.His522fs) rs1555502530
NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del) rs2090626831
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) rs1599992745
NM_000557.5(GDF5):c.1397G>A (p.Cys466Tyr) rs886039878
NM_000618.5(IGF1):c.285C>A (p.Cys95Ter) rs3730193
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly) rs886039883
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs) rs796051938
NM_000821.7(GGCX):c.1987C>T (p.Gln663Ter) rs1691898752
NM_000821.7(GGCX):c.773G>A (p.Gly258Asp) rs1692107154
NM_000860.6(HPGD):c.446C>G (p.Pro149Arg) rs375335006
NM_000901.5(NR3C2):c.2096del (p.Pro699fs) rs748573472
NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter) rs765879360
NM_001009944.3(PKD1):c.11017-47_11022del rs2091672168
NM_001009944.3(PKD1):c.11048dup (p.Thr3684fs) rs1596485991
NM_001009944.3(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.3(PKD1):c.11305_11306del (p.Thr3769fs) rs1555446053
NM_001009944.3(PKD1):c.11367_11368del (p.His3789fs) rs2091616873
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs) rs1555445585
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.2667dup (p.Asn890fs) rs2092593686
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs) rs1596566156
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs) rs1596527744
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.9415G>A (p.Gly3139Ser) rs1165123201
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs) rs1596514864
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_001042492.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_001042492.3(NF1):c.2010del (p.Ala671fs) rs1597712251
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly) rs876658853
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs) rs1597719490
NM_001042492.3(NF1):c.3708+1G>A rs1420779915
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg) rs1135402865
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001103.4(ACTN2):c.229G>T (p.Glu77Ter) rs1572112489
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=) rs1057516190
NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser) rs2055190908
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser) rs1429832884
NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp) rs139743444
NM_001126108.2(SLC12A3):c.271T>C (p.Ser91Pro) rs1555499151
NM_001126108.2(SLC12A3):c.509T>C (p.Leu170Pro) rs1596890176
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys) rs1933257247
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr) rs768837125
NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr) rs1568839335
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro) rs1555190969
NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer) rs1594329885
NM_001172509.2(SATB2):c.75del (p.Pro26fs) rs1574645416
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs) rs1057516196
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile) rs1060499697
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter) rs777986863
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077
NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_001252024.2(TRPM1):c.1460T>A (p.Met487Lys) rs1596017653
NM_001252024.2(TRPM1):c.282T>G (p.Tyr94Ter) rs372529012
NM_001256789.3(CACNA1F):c.3037-2A>G rs1057516199
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter) rs756238324
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) rs1574390811
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) rs1330263985
NM_001349884.2(DRAM2):c.568G>T (p.Glu190Ter) rs1057516195
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter) rs1553704841
NM_001354712.2(THRB):c.977A>G (p.Glu326Gly) rs1060499695
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg) rs1161445886
NM_001369268.1(ACAN):c.-7-2A>T rs1596128699
NM_001378454.1(ALMS1):c.1437_1450del (p.Asp479fs) rs1572931120
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs) rs1586841546
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_001844.5(COL2A1):c.3436-2A>G rs1592198803
NM_002585.4(PBX1):c.618dup (p.Lys207fs) rs1571431063
NM_002585.4(PBX1):c.634C>T (p.Gln212Ter) rs1668978337
NM_002585.4(PBX1):c.703C>T (p.Arg235Trp) rs1571445295
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.2287dup (p.Arg763fs) rs1597229151
NM_002968.3(SALL1):c.2801del (p.Ser934fs) rs1597228490
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003052.5(SLC34A1):c.713A>C (p.Glu238Ala) rs1554095500
NM_003060.4(SLC22A5):c.614T>G (p.Met205Arg) rs796052033
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp) rs1449715458
NM_003611.3(OFD1):c.2791_2795del (p.Lys931fs) rs1602942625
NM_003647.3(DGKE):c.1169G>A (p.Arg390His) rs1060499709
NM_003647.3(DGKE):c.1442dup (p.Val482fs) rs1567825026
NM_003647.3(DGKE):c.178C>G (p.His60Asp) rs1482608926
NM_003901.4(SGPL1):c.87del (p.Asn28_Tyr29insTer) rs1564622701
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) rs1555470631
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) rs1827646767
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.4(NPHS1):c.2902G>T (p.Gly968Cys) rs772979927
NM_004924.6(ACTN4):c.458T>C (p.Phe153Ser) rs1568723797
NM_004924.6(ACTN4):c.510_512del (p.Leu171del) rs1568725026
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) rs1590859406
NM_005378.6(MYCN):c.845_846del (p.Val282fs) rs1572220856
NM_005450.6(NOG):c.599T>C (p.Leu200Pro) rs1567745111
NM_005630.3(SLCO2A1):c.1106-1G>C rs1576428882
NM_005630.3(SLCO2A1):c.86del (p.Gly29fs) rs1576467025
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter) rs1585569717
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser) rs1573592033
NM_006494.4(ERF):c.286A>T (p.Lys96Ter) rs1599823350
NM_006915.3(RP2):c.758del (p.Leu253fs) rs1602347992
NM_006941.4(SOX10):c.428+2T>C rs1601886662
NM_007214.5(SEC63):c.1124A>G (p.Gln375Arg) rs1787041288
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) rs761628767
NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp) rs12150890
NM_014625.4(NPHS2):c.167del (p.Glu56fs) rs1558355124
NM_014625.4(NPHS2):c.479A>T (p.Asp160Val) rs74315346
NM_014669.5(NUP93):c.1709T>A (p.Val570Glu) rs1351580598
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_015072.5(TTLL5):c.987A>T (p.Glu329Asp) rs1555384338
NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs) rs1570504754
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) rs1600356790
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) rs2073703461
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His) rs1559642470
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) rs886039881
NM_018192.4(P3H2):c.679G>T (p.Glu227Ter) rs1408355931
NM_018668.5(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_020184.4(CNNM4):c.782T>C (p.Leu261Pro) rs1574047005
NM_020433.5(JPH2):c.191G>A (p.Trp64Ter) rs754529157
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter) rs777893794
NM_020843.4(SCAPER):c.2653del (p.Glu885fs) rs1597752941
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) rs587784173
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) rs1760068807
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu) rs372066126
NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln) rs1226344391
NM_024312.5(GNPTAB):c.1664_1667delinsTA (p.Tyr555fs) rs1953072149
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) rs1570655570
NM_024426.6(WT1):c.1259A>C (p.His420Pro) rs1554939785
NM_024649.5(BBS1):c.777del (p.Glu260fs) rs1555047786
NM_025114.4(CEP290):c.297+1G>A rs878853360
NM_032119.4(ADGRV1):c.4391T>G (p.Leu1464Arg) rs1580624630
NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg) rs1603286154
NM_033380.3(COL4A5):c.1387G>C (p.Gly463Arg) rs1556410516
NM_033380.3(COL4A5):c.1708G>A (p.Gly570Arg) rs1603290169
NM_033380.3(COL4A5):c.1771G>A (p.Gly591Arg) rs1569494061
NM_033380.3(COL4A5):c.2183G>A (p.Gly728Glu) rs1603292422
NM_033380.3(COL4A5):c.2537G>A (p.Gly846Glu) rs1569497690
NM_033380.3(COL4A5):c.2579G>A (p.Gly860Asp) rs1556419831
NM_033380.3(COL4A5):c.2587G>A (p.Gly863Ser) rs1603297305
NM_033380.3(COL4A5):c.2615G>C (p.Gly872Ala) rs1556419869
NM_033380.3(COL4A5):c.2642G>T (p.Gly881Val) rs1556419895
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser) rs1556420349
NM_033380.3(COL4A5):c.2695G>A (p.Gly899Ser) rs1556420358
NM_033380.3(COL4A5):c.2927G>A (p.Gly976Glu) rs1603298378
NM_033380.3(COL4A5):c.2963G>A (p.Gly988Glu) rs1569498623
NM_033380.3(COL4A5):c.3052G>T (p.Gly1018Cys) rs1603298869
NM_033380.3(COL4A5):c.3152G>A (p.Gly1051Glu) rs1603298993
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp) rs1603306716
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp) rs1060499710
NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val) rs2068097992
NM_033380.3(COL4A5):c.3942G>A (p.Gln1314=) rs281874724
NM_033380.3(COL4A5):c.4475G>T (p.Gly1492Val) rs104886282
NM_033380.3(COL4A5):c.4529-345A>G rs1569508899
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe) rs104886287
NM_033380.3(COL4A5):c.4811C>T (p.Ser1604Phe) rs1569509257
NM_033380.3(COL4A5):c.547G>A (p.Gly183Ser) rs1556404985
NM_033380.3(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_033380.3(COL4A5):c.619G>A (p.Gly207Ser) rs1569490379
NM_033380.3(COL4A5):c.638G>T (p.Gly213Val) rs104886066
NM_033380.3(COL4A5):c.707G>A (p.Gly236Asp) rs1556406001
NM_033380.3(COL4A5):c.799G>A (p.Gly267Arg) rs1603283567
NM_033380.3(COL4A5):c.929G>T (p.Gly310Val) rs1556407064
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys) rs913477149
NM_138694.4(PKHD1):c.1472A>C (p.His491Pro) rs886039888
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.8285A>T (p.Asp2762Val) rs1554263076
NM_138694.4(PKHD1):c.8864G>T (p.Arg2955Leu) rs1582469538
NM_138694.4(PKHD1):c.8951G>C (p.Gly2984Ala) rs1057516201
NM_139027.6(ADAMTS13):c.1585-1G>C rs1554789680
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del) rs1554797078
NM_144997.7(FLCN):c.1549del (p.Val517fs) rs1597574368
NM_152443.3(RDH12):c.149G>A (p.Gly50Asp) rs1594865064
NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) rs1565058763
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del) rs1588119681
NM_172240.3(POC1B):c.1332_1333dup (p.Thr445fs) rs1880707874
NM_172240.3(POC1B):c.52A>T (p.Lys18Ter) rs758725010
NM_172351.3(CD46):c.685C>T (p.Arg229Ter) rs1553251787
NM_173689.7(CRB2):c.47_53dup (p.Leu19fs) rs1588200023
NM_174878.3(CLRN1):c.188A>C (p.Tyr63Ser) rs1715589813
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr) rs1060499693
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn) rs1060499715
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_198428.3(BBS9):c.785T>C (p.Val262Ala) rs886039875
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871
NM_201548.5(CERKL):c.677+547G>A rs1044562973
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val) rs1360258103
NM_206933.4(USH2A):c.8558+5G>A rs746331566

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