ClinVar Miner

List of variants reported by Division of Human Genetics, Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 310
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) rs146924860 0.00060
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826 0.00047
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_003235.5(TG):c.886C>T (p.Arg296Ter) rs121912648 0.00041
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00029
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588 0.00018
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser) rs139199018 0.00011
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_020549.5(CHAT):c.1382T>C (p.Val461Ala) rs918273981 0.00011
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318 0.00009
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372 0.00009
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_004646.4(NPHS1):c.2335-1G>A rs150038620 0.00009
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu) rs201847956 0.00006
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu) rs749340561 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr) rs553079779 0.00004
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982 0.00004
NM_015175.3(NBEAL2):c.1976G>A (p.Arg659Gln) rs567205565 0.00004
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639 0.00003
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) rs727503236 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu) rs148619523 0.00003
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr) rs753441206 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_000303.3(PMM2):c.255+1G>A rs1060499598 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_001128126.3(AP4S1):c.138+2T>G rs377679827 0.00002
NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp) rs144046935 0.00002
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) rs536617217 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) rs373387978 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_014000.3(VCL):c.158A>G (p.Asn53Ser) rs751938777 0.00002
NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) rs149367480 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg) rs781747541 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) rs199708957 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter) rs771663107 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) rs794729642 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_014251.3(SLC25A13):c.468+1G>C rs1060499612 0.00001
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) rs964336018 0.00001
NM_017636.4(TRPM4):c.379G>A (p.Gly127Ser) rs368769982 0.00001
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) rs760530009 0.00001
NM_018451.5(CENPJ):c.3367-1G>A rs763715733 0.00001
NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys) rs1060499577 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) rs752930006 0.00001
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) rs757043077 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_144573.4(NEXN):c.1687G>T (p.Gly563Cys) rs1060499571 0.00001
NM_144573.4(NEXN):c.671G>A (p.Cys224Tyr) rs886046534 0.00001
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp) rs545095722 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs) rs1064792896
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4937T>C (p.Leu1646Pro) rs1060499611
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) rs794729652
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr) rs1060499585
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) rs1555472406
NM_000527.5(LDLR):c.557del (p.Gly186fs) rs879254573
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_001001548.3(CD36):c.701_701+3dup rs1554343345
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001032283.3(TMPO):c.565+1717G>C rs1060499573
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu) rs754901791
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.724G>A (p.Asp242Asn) rs1060499569
NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs) rs1553125914
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs) rs1555122100
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001101.5(ACTB):c.123+1G>A rs794729643
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs) rs1553543413
NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp) rs1060499583
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys) rs1555905749
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro) rs1555905307
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg) rs1060499574
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg) rs1060499580
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs) rs1555669048
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) rs1969550367
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu) rs1969550532
NM_001451.3(FOXF1):c.965del (p.Pro322fs) rs1969566429
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001754.5(RUNX1):c.1294T>C (p.Cys432Arg) rs1060499613
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln) rs1060499616
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs) rs1553509010
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.899_903del (p.Asp300fs) rs1060499587
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_003764.4(STX11):c.391C>T (p.Gln131Ter) rs794729649
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) rs794729651
NM_004369.4(COL6A3):c.7669-2del rs764193290
NM_004415.4(DSP):c.274-3C>G rs794729638
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004493.3(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala) rs1060499594
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) rs1060499607
NM_005247.4(FGF3):c.270dup (p.Leu91fs) rs1554981083
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr) rs1060499589
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) rs1060499595
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) rs794729641
NM_012434.5(SLC17A5):c.409del (p.Met137fs) rs794729653
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs) rs794729645
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) rs794729637
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter) rs571594379
NM_022336.4(EDAR):c.284del (p.Gly95fs) rs1060499610
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) rs1060499588
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter) rs1060499602
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln) rs150414382
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile) rs1060499570
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_152443.3(RDH12):c.63_66del (p.Ile22fs) rs794729650
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_173495.3(PTCHD1):c.907G>A (p.Gly303Arg) rs1060499615
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) rs1060499581
Single allele

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