ClinVar Miner

List of variants reported as uncertain significance by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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ClinVar version:
Total variants: 1098
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_001752.4(CAT):c.903+5G>T rs147912187 0.00169
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001112.4(ADARB1):c.1397-354A>G rs544025652 0.00113
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_001098537.3(PNPLA7):c.3443G>A (p.Gly1148Glu) rs141473646 0.00086
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_004793.4(LONP1):c.1985T>G (p.Val662Gly) rs144822855 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_152416.4(NDUFAF6):c.715-3C>A rs200620409 0.00054
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00042
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His) rs754607405 0.00035
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys) rs201107590 0.00031
NM_006059.4(LAMC3):c.1066C>T (p.Arg356Cys) rs138713603 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_018082.6(POLR3B):c.2817+30T>A rs142517808 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_001813.3(CENPE):c.80C>T (p.Ala27Val) rs533108216 0.00021
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys) rs199899258 0.00017
NM_032237.5(POMK):c.136C>T (p.Arg46Ter) rs202036744 0.00017
NM_000070.3(CAPN3):c.*534T>C rs772498665 0.00016
NM_000157.4(GBA1):c.535G>C (p.Asp179His) rs147138516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val) rs369049969 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753 0.00014
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val) rs200971081 0.00013
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu) rs776826330 0.00012
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_005868.6(BET1):c.134del (p.Ala45fs) rs541754296 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys) rs749113504 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His) rs536758576 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp) rs142620721 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met) rs757068809 0.00006
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys) rs144063384 0.00006
NM_001367823.1(ARHGEF18):c.1469G>T (p.Arg490Leu) rs960519789 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg) rs138305578 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu) rs751818701 0.00005
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile) rs535526499 0.00005
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn) rs921423540 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) rs145955590 0.00004
NM_001098537.3(PNPLA7):c.1889+1G>A rs767961762 0.00004
NM_001365999.1(SZT2):c.7150G>A (p.Asp2384Asn) rs201622088 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu) rs1028575136 0.00004
NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu) rs587784326 0.00004
NM_003906.5(MCM3AP):c.4787G>A (p.Arg1596His) rs541319271 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_007055.4(POLR3A):c.200G>A (p.Arg67His) rs778357727 0.00004
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln) rs781132110 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) rs193922477 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro) rs765713843 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000458.4(HNF1B):c.100C>T (p.Leu34=) rs373201245 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) rs150513055 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser) rs931374138 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) rs368767696 0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_003560.4(PLA2G6):c.1187-1G>A rs1477656610 0.00003
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys) rs370691849 0.00003
NM_003730.6(RNASET2):c.748C>T (p.Pro250Ser) rs759625896 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu) rs752860146 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_017739.4(POMGNT1):c.1453C>T (p.Arg485Cys) rs755588045 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) rs201732170 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000540.3(RYR1):c.424+4C>A rs772775579 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_001082971.2(DDC):c.476C>T (p.Ala159Val) rs201828034 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_001429.4(EP300):c.1781C>T (p.Thr594Met) rs750740148 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr) rs139093920 0.00002
NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys) rs778705470 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128 0.00002
NM_005993.5(TBCD):c.1087+5G>A rs374775577 0.00002
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp) rs185479618 0.00002
NM_006612.6(KIF1C):c.697C>T (p.Leu233Phe) rs1361059674 0.00002
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His) rs376405070 0.00002
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser) rs192332506 0.00002
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797 0.00002
NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln) rs778985686 0.00002
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_018082.6(POLR3B):c.1857-12A>G rs528038639 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_021222.3(PRUNE1):c.115G>C (p.Ala39Pro) rs756008936 0.00002
NM_021831.6(AGBL5):c.842G>A (p.Arg281His) rs1448861312 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418 0.00001
NM_000070.3(CAPN3):c.2092C>T (p.Arg698Cys) rs764370512 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro) rs145817990 0.00001
NM_000156.6(GAMT):c.328-1G>A rs756772965 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.571-3C>G rs1367661704 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu) rs758786811 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) rs764146649 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.212A>G (p.Glu71Gly) rs781927744 0.00001
NM_000169.3(GLA):c.361G>A (p.Ala121Thr) rs782197638 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) rs139951191 0.00001
NM_000195.5(HPS1):c.1996G>A (p.Glu666Lys) rs121908385 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000458.4(HNF1B):c.345-11T>G rs200782591 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro) rs780420237 0.00001
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu) rs1043661945 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg) rs138145827 0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser) rs753702603 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile) rs775608608 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys) rs774996577 0.00001
NM_000545.8(HNF1A):c.503G>A (p.Arg168His) rs377110124 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp) rs757574765 0.00001
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr) rs573680102 0.00001
NM_001080483.3(MYMK):c.399+5G>A rs755976471 0.00001
NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs) rs1386322306 0.00001
NM_001082538.3(TCTN1):c.689T>C (p.Leu230Pro) rs1225241777 0.00001
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) rs778818769 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser) rs777785781 0.00001
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr) rs149686954 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001256789.3(CACNA1F):c.3846C>T (p.Thr1282=) rs782121738 0.00001
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter) rs768073446 0.00001
NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) rs769424345 0.00001
NM_001291303.3(FAT4):c.9313A>G (p.Ser3105Gly) rs764097811 0.00001
NM_001352754.2(ARMC9):c.1307T>C (p.Leu436Pro) rs925676705 0.00001
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu) rs754136527 0.00001
NM_001358921.2(COQ2):c.253+4A>T rs907149421 0.00001
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg) rs1650946025 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.92-528C>T rs190773725 0.00001
NM_001384732.1(CPLANE1):c.6172C>G (p.Leu2058Val) rs576883816 0.00001
NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg) rs566588740 0.00001
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys) rs375234125 0.00001
NM_001673.5(ASNS):c.203C>T (p.Pro68Leu) rs774187768 0.00001
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly) rs1689781072 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_003322.6(TULP1):c.1597T>C (p.Ser533Pro) rs769287941 0.00001
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr) rs769000561 0.00001
NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe) rs587784331 0.00001
NM_003560.4(PLA2G6):c.1532T>C (p.Leu511Pro) rs1356679312 0.00001
NM_003560.4(PLA2G6):c.1591+5G>C rs1064796469 0.00001
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys) rs587784337 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003560.4(PLA2G6):c.1974C>A (p.Asn658Lys) rs1048444597 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly) rs746405809 0.00001
NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu) rs121908682 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_003835.4(RGS9):c.458A>G (p.Tyr153Cys) rs755034844 0.00001
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) rs776926045 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004793.4(LONP1):c.2536G>A (p.Glu846Lys) rs752945140 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu) rs1376071051 0.00001
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NM_005327.7(HADH):c.406A>G (p.Lys136Glu) rs1262186453 0.00001
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188 0.00001
NM_005993.5(TBCD):c.2789A>G (p.His930Arg) rs775950678 0.00001
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln) rs753456807 0.00001
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) rs779315061 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) rs1211210077 0.00001
NM_007055.4(POLR3A):c.2563C>T (p.Arg855Trp) rs775160820 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser) rs1003620056 0.00001
NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn) rs757209071 0.00001
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680 0.00001
NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu) rs80357031 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014444.5(TUBGCP4):c.1597-11A>G rs1471253381 0.00001
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg) rs1660302910 0.00001
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met) rs757728167 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) rs1239939744 0.00001
NM_017752.3(TBC1D8B):c.1316T>G (p.Phe439Cys) rs1223251037 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe) rs1171962004 0.00001
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn) rs781671613 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro) rs749670593 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr) rs765382317 0.00001
NM_018941.4(CLN8):c.416A>G (p.His139Arg) rs1195769874 0.00001
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) rs778368053 0.00001
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_020366.4(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys) rs765368764 0.00001
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) rs757446463 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu) rs766193452 0.00001
NM_024649.5(BBS1):c.592-21A>T rs754794374 0.00001
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) rs761760689 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) rs774806370 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_058246.4(DNAJB6):c.608T>C (p.Ile203Thr) rs781071853 0.00001
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152703.5(SAMD9L):c.1617_1618del (p.Gly541fs) rs1584279870 0.00001
NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys) rs1313698326 0.00001
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro) rs771718467 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) rs773498177 0.00001
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) rs376816523 0.00001
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) rs1290644032 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_213599.3(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236 0.00001
GRCh38/hg38 13q12.13(chr13:25567155-25574530)x0
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
GRCh38/hg38 18q21.2(chr18:53157259-53340005)x1
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1
GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1
GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0
GRCh38/hg38 20q13.2(chr20:51783476-51785034)x1
GRCh38/hg38 2p13.2(chr2:71643868-71644161)x0
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
GRCh38/hg38 Xp11.23(chrX:49222435-49226325)x0
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
NC_000006.12:g.106539151_106629957del
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.37+5G>T
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe) rs866769874
NM_000070.3(CAPN3):c.1193+6T>A rs1555421532
NM_000070.3(CAPN3):c.1354+129T>A
NM_000070.3(CAPN3):c.484A>T (p.Ile162Phe) rs1595819812
NM_000070.3(CAPN3):c.509A>G (p.Tyr170Cys) rs1555420468
NM_000070.3(CAPN3):c.533T>C (p.Ile178Thr) rs794727615
NM_000070.3(CAPN3):c.679G>A (p.Ala227Thr) rs1595822648
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1704C>G (p.His568Gln) rs776882059
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) rs1175728529
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) rs775524898
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro) rs1566976644
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter) rs761115975
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.440_441del (p.His147fs) rs1487842051
NM_000156.6(GAMT):c.491G>T (p.Gly164Val) rs760101382
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs) rs1443859067
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg) rs794727708
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu) rs1253319926
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile) rs1376631949
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly) rs193929374
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.577G>C (p.Gly193Arg) rs376050856
NM_000162.5(GCK):c.709G>A (p.Glu237Lys) rs1176858193
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.773G>A (p.Gly258Asp) rs747662793
NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs)
NM_000169.3(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.3(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1937A>G (p.Tyr646Cys) rs1467653379
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000237.3(LPL):c.784C>T (p.Gln262Ter) rs1297688787
NM_000252.3(MTM1):c.136+172T>C
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) rs1595074765
NM_000257.4(MYH7):c.5655+4A>T
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser) rs747310316
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile) rs746285672
NM_000283.4(PDE6B):c.1107+219G>A
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys) rs1263635426
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000329.3(RPE65):c.922_924del (p.Pro308del) rs756125943
NM_000335.5(SCN5A):c.3065C>A (p.Thr1022Asn) rs2061573479
NM_000350.3(ABCA4):c.396del (p.Leu132fs)
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu) rs144481621
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.3330-13G>A
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala) rs764950519
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
NM_000376.3(VDR):c.227G>T (p.Cys76Phe) rs1565618291
NM_000382.3(ALDH3A2):c.620A>C (p.Glu207Ala)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg) rs2113582384
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg) rs767576616
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000539.3(RHO):c.568G>C (p.Asp190His) rs104893779
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14647-3C>G rs1974401494
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser) rs1568465251
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys) rs2145677238
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro) rs797044798
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr) rs747433197
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln) rs1353807357
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp) rs539507291
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg) rs267603343
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) rs193922606
NM_001009944.3(PKD1):c.377C>T (p.Pro126Leu) rs1567219166
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg) rs1580526653
NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln) rs1596361132
NM_001018005.2(TPM1):c.772+17T>A rs1596386853
NM_001029.5(RPS26):c.182-16_182-4del
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001032.5(RPS29):c.63-6T>G rs1594573747
NM_001034853.2(RPGR):c.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
NM_001034853.2(RPGR):c.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.3221_3225del (p.Glu1074fs)
NM_001034853.2(RPGR):c.470-13T>G
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_001039591.3(USP9X):c.771-2A>G
NM_001042681.2(RERE):c.707A>G (p.Tyr236Cys) rs1570434132
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
NM_001069.3(TUBB2A):c.1099T>C (p.Phe367Leu) rs1581496432
NM_001070.5(TUBG1):c.618C>G (p.Asp206Glu) rs1200312178
NM_001077418.3(TMEM231):c.119T>G (p.Leu40Arg) rs1567441193
NM_001082538.3(TCTN1):c.1171G>A (p.Gly391Arg) rs1566001519
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) rs2102736424
NM_001101.5(ACTB):c.1063_1082del (p.Met355fs) rs2128241165
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser) rs61730207
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001130987.2(DYSF):c.1490A>T (p.Asp497Val) rs1573811118
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.4429G>A (p.Asp1477Asn) rs767788624
NM_001130987.2(DYSF):c.4568C>A (p.Ser1523Tyr) rs1572921644
NM_001130987.2(DYSF):c.5727G>T (p.Arg1909Ser) rs1336670524
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu) rs1573176526
NM_001130987.2(DYSF):c.850A>G (p.Thr284Ala) rs1573658295
NM_001130987.2(DYSF):c.951+3_951+4del rs1573663867
NM_001134673.4(NFIA):c.1132C>T (p.Gln378Ter)
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) rs950101299
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001142800.2(EYS):c.7899-8A>G rs1769675220
NM_001142966.3(GREB1L):c.5068G>A (p.Val1690Met) rs1555663997
NM_001142966.3(GREB1L):c.5614dup (p.Thr1872fs)
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
NM_001164508.2(NEB):c.11805+2T>A
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.24115-151C>A rs1575076895
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs)
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) rs1592198426
NM_001191061.2(SLC25A22):c.191G>T (p.Gly64Val)
NM_001195553.2(DCX):c.706-2794G>A
NM_001197104.2(KMT2A):c.11072-1G>A
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser)
NM_001256012.3(MYH10):c.220G>A (p.Asp74Asn)
NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)
NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu) rs2135487981
NM_001267550.2(TTN):c.104092del (p.Arg34698fs)
NM_001267550.2(TTN):c.16055-3C>G
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser) rs1577672002
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs) rs2064831878
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.99716del (p.Asn33239fs)
NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001272071.2(AP1S2):c.*241A>C
NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn) rs1591299258
NM_001278716.2(FBXL4):c.1709_1710dup (p.Met571fs)
NM_001286577.2(C2CD3):c.3967G>T (p.Val1323Phe) rs1955571784
NM_001291303.3(FAT4):c.13582dup (p.Cys4528fs)
NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn) rs1596974089
NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg) rs773593999
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
NM_001318510.2(ACSL4):c.332C>A (p.Thr111Asn) rs1412919038
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly) rs751046231
NM_001321120.2(TBX4):c.401+3A>T rs574516876
NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys) rs1829302172
NM_001349338.3(FOXP1):c.1146+5G>C rs1553678368
NM_001351132.2(PEX5):c.140_147+36del
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001354768.3(NRL):c.559C>A (p.Leu187Met) rs35984106
NM_001354969.2(MDM1):c.1227dup (p.Lys410Ter)
NM_001355221.1(TUBA4B):c.12+147G>C
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)
NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu) rs1602353928
NM_001368882.1(COL13A1):c.549+5G>A rs2134524471
NM_001368882.1(COL13A1):c.576+5G>A rs2060807560
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_001375524.1(TRRAP):c.1562_1563insT (p.Ala522fs)
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser) rs762363509
NM_001395058.1(MYO15B):c.2651+2T>A
NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
NM_001458.5(FLNC):c.700-2A>G
NM_001458.5(FLNC):c.7588A>T (p.Thr2530Ser) rs760694025
NM_001673.5(ASNS):c.1235A>G (p.His412Arg) rs201394816
NM_001673.5(ASNS):c.484A>G (p.Lys162Glu) rs2115707912
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.955-3C>G rs1208931749
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470
NM_001961.4(EEF2):c.442del (p.Ala148fs)
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
NM_002144.4(HOXB1):c.764G>A (p.Arg255Gln) rs1567932264
NM_002161.6(IARS1):c.2229+5G>A
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
NM_002292.4(LAMB2):c.511A>C (p.Thr171Pro) rs1560077016
NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)
NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr) rs1327830771
NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu) rs1566505007
NM_002529.4(NTRK1):c.1796_1799dup (p.Phe600fs)
NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) rs1602902855
NM_002778.4(PSAP):c.613_615dup (p.Val205dup) rs1589451004
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
NM_003055.3(SLC18A3):c.557G>C (p.Gly186Ala) rs1057517665
NM_003124.5(SPR):c.80T>C (p.Leu27Pro) rs1559047972
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_003289.4(TPM2):c.13_57dup (p.Ile19_Asp20insLysLysLysMetGlnMetLeuLysLeuAspLysGluAsnAlaIle)
NM_003322.6(TULP1):c.1113-9_1113delinsCATC rs2150924300
NM_003322.6(TULP1):c.5C>A (p.Pro2His) rs1174952138
NM_003322.6(TULP1):c.890G>C (p.Arg297Pro) rs777674253
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
NM_003383.5(VLDLR):c.1374del (p.Glu460fs) rs1586653366
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003560.4(PLA2G6):c.1018G>A (p.Gly340Arg)
NM_003560.4(PLA2G6):c.1078-3C>A
NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)
NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1549G>T (p.Gly517Cys)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1979C>G (p.Pro660Arg) rs547175863
NM_003560.4(PLA2G6):c.2128del (p.Arg710fs)
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)
NM_003560.4(PLA2G6):c.2277-2A>C rs552606315
NM_003560.4(PLA2G6):c.2375A>C (p.His792Pro) rs893021938
NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)
NM_003560.4(PLA2G6):c.278C>A (p.Pro93His)
NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala) rs1602184043
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.719T>C (p.Leu240Pro)
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del) rs587784360
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003722.5(TP63):c.191+5G>C rs1553824695
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
NM_003906.5(MCM3AP):c.5423del (p.Gly1808fs) rs747306849
NM_004006.3(DMD):c.6438+88106A>G
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr) rs201621364
NM_004273.5(CHST3):c.1052C>A (p.Ser351Tyr) rs1057520111
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004370.6(COL12A1):c.8319+5G>A
NM_004429.5(EFNB1):c.406+4A>G
NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
NM_004646.4(NPHS1):c.2276T>C (p.Ile759Thr) rs775313529
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp) rs142253030
NM_004722.4(AP4M1):c.974+115dup
NM_004826.4(ECEL1):c.2314T>C (p.Cys772Arg)
NM_004928.3(CFAP410):c.143+3A>T
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005045.4(RELN):c.5615-102A>G
NM_005087.4(FXR1):c.1603+733del rs769011065
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu) rs1721862059
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp) rs1721905984
NM_005215.4(DCC):c.3620-2A>G rs1292231805
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
NM_005246.4(FER):c.1887A>C (p.Gln629His)
NM_005324.5(H3-3B):c.354C>A (p.Val118=) rs766432479
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs) rs766656997
NM_005327.7(HADH):c.710-822C>A rs183387994
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
NM_005560.6(LAMA5):c.857G>T (p.Arg286Leu) rs962267864
NM_005654.6(NR2F1):c.463+6T>C
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005677.4(COLQ):c.1319G>A (p.Cys440Tyr) rs2125077498
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
NM_005868.6(BET1):c.202G>C (p.Asp68His) rs1562806584
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_005902.4(SMAD3):c.266G>A (p.Cys89Tyr) rs1962535460
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005993.5(TBCD):c.2100del (p.Ile700fs) rs2061363316
NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg) rs1568053442
NM_005993.5(TBCD):c.951-2A>G rs2050922982
NM_005996.4(TBX3):c.830A>C (p.Asn277Thr)
NM_006000.3(TUBA4A):c.1169G>A (p.Arg390His)
NM_006000.3(TUBA4A):c.727C>A (p.Arg243Ser)
NM_006009.4(TUBA1A):c.1136G>A (p.Ser379Asn)
NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala)
NM_006059.4(LAMC3):c.2726A>G (p.Gln909Arg) rs1160626988
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006086.4(TUBB3):c.371G>C (p.Cys124Ser)
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
NM_006204.4(PDE6C):c.1413+3A>T
NM_006306.4(SMC1A):c.3507+5G>A
NM_006348.5(COG5):c.959T>C (p.Leu320Pro) rs1584729488
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp) rs2151108985
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) rs2154034738
NM_006617.2(NES):c.23A>T (p.Glu8Val)
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.511-5A>G
NM_006662.3(SRCAP):c.9044C>T (p.Pro3015Leu) rs1567254950
NM_006852.6(TLK2):c.163A>G (p.Lys55Glu) rs774263147
NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)
NM_007055.4(POLR3A):c.*18C>T rs1248039821
NM_007055.4(POLR3A):c.1031G>T (p.Arg344Leu)
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1451G>A (p.Arg484Gln)
NM_007055.4(POLR3A):c.1572+1G>T rs141484643
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) rs762708292
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe) rs746116821
NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln) rs374831450
NM_007055.4(POLR3A):c.2425G>C (p.Val809Leu)
NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg) rs1399429058
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg) rs748548960
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) rs747257894
NM_007055.4(POLR3A):c.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.2988+1G>T rs201733323
NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del) rs780755978
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln) rs373306216
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg) rs768222183
NM_007055.4(POLR3A):c.4025-1G>A
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser) rs778865072
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr) rs1600416892
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_007347.5(AP4E1):c.1429+1G>T
NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup) rs1588218148
NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser) rs762907412
NM_012290.5(TLK1):c.1435C>G (p.Gln479Glu)
NM_012330.4(KAT6B):c.2152C>T (p.Arg718Trp) rs1842359062
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=) rs1404200133
NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro) rs2102536303
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
NM_014370.4(SRPK3):c.749-2A>G
NM_014669.5(NUP93):c.1463A>G (p.His488Arg) rs1596856296
NM_014669.5(NUP93):c.2079G>C (p.Leu693Phe) rs1334928223
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_015047.3(EMC1):c.2588-771C>G
NM_015100.4(POGZ):c.3837del (p.Lys1279fs)
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015166.4(MLC1):c.917T>A (p.Leu306Gln) rs768711345
NM_015271.5(TRIM2):c.790del (p.Leu264fs)
NM_015289.5(VPS39):c.442-2A>G
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del) rs2148496996
NM_015681.6(B9D1):c.338G>C (p.Gly113Ala) rs2152261827
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp) rs1647600390
NM_016023.5(OTUD6B):c.692T>C (p.Leu231Pro)
NM_016023.5(OTUD6B):c.776C>A (p.Ser259Ter)
NM_016038.4(SBDS):c.128+3G>C
NM_016077.5(PTRH2):c.515_516del (p.Val172fs)
NM_016213.5(TRIP4):c.1065del (p.Ile356fs) rs1891833492
NM_016261.4(TUBD1):c.280T>C (p.Phe94Leu)
NM_016373.4(WWOX):c.410G>T (p.Gly137Val) rs761879076
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs) rs1596646165
NM_016580.4(PCDH12):c.838G>T (p.Glu280Ter) rs1753196023
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) rs1029077401
NM_017534.6(MYH2):c.904+1G>C
NM_017588.3(WDR5):c.354+2dup
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) rs2124577339
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del) rs2148194204
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1152+1G>A rs1474858292
NM_017739.4(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.4(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.4(POMGNT1):c.1413+1G>C rs587777821
NM_017739.4(POMGNT1):c.1489C>G (p.Arg497Gly)
NM_017739.4(POMGNT1):c.1502T>C (p.Phe501Ser) rs727502852
NM_017739.4(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.4(POMGNT1):c.563_564del (p.Thr188fs) rs757322014
NM_017739.4(POMGNT1):c.56G>A (p.Arg19Gln)
NM_017739.4(POMGNT1):c.653-2del
NM_017739.4(POMGNT1):c.752-2A>G rs1236287516
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017934.7(PHIP):c.895C>T (p.Leu299Phe)
NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)
NM_018082.6(POLR3B):c.1627+7A>G
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018116.4(MSTO1):c.1433A>G (p.Tyr478Cys) rs1210628887
NM_018116.4(MSTO1):c.1435C>T (p.Pro479Ser) rs1674934230
NM_018116.4(MSTO1):c.707A>G (p.Asp236Gly) rs1674285118
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys)
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913
NM_018684.4(ZC4H2):c.3G>A (p.Met1Ile)
NM_018684.4(ZC4H2):c.551del (p.Pro184fs)
NM_018684.4(ZC4H2):c.561+7G>A rs1929057022
NM_018838.5(NDUFA12):c.121dup (p.Glu41fs) rs1592708249
NM_018941.4(CLN8):c.637del (p.Trp213fs) rs2129015232
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
NM_019892.6(INPP5E):c.1159+16_1159+33del rs1239490197
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe) rs1300890772
NM_020338.4(ZMIZ1):c.1612_1613dup (p.Pro539fs)
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020435.4(GJC2):c.768C>G (p.Cys256Trp) rs1571908096
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1388-1G>C
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
NM_020451.3(SELENON):c.872+2T>C rs794727808
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
NM_020533.3(MCOLN1):c.877G>A (p.Gly293Arg) rs1599254675
NM_020549.5(CHAT):c.1145A>G (p.Glu382Gly) rs2132799619
NM_020549.5(CHAT):c.1964T>C (p.Leu655Pro) rs2132852977
NM_020738.4(KIDINS220):c.3529-5G>T
NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) rs1592332125
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) rs1208074975
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr) rs768220615
NM_021224.6(ZNF462):c.2926A>G (p.Thr976Ala)
NM_021224.6(ZNF462):c.5771G>A (p.Arg1924His)
NM_021728.4(OTX2):c.677_678insTGTG (p.Leu227fs)
NM_021729.6(VPS11):c.2557A>G (p.Ser853Gly) rs1565746289
NM_022041.4(GAN):c.1503-2A>G
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
NM_022095.4(ZNF335):c.201+85G>A
NM_022455.5(NSD1):c.3922-9T>A
NM_022552.5(DNMT3A):c.1353_1356dup (p.Pro453fs)
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_025114.4(CEP290):c.4705-2A>C rs2137170380
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) rs199970847
NM_031263.4(HNRNPK):c.1361+7T>G
NM_031263.4(HNRNPK):c.214-6A>G
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_031885.5(BBS2):c.851A>T (p.Asn284Ile) rs377749641
NM_031885.5(BBS2):c.940+3A>C rs2144150079
NM_032237.5(POMK):c.965C>T (p.Pro322Leu) rs747083630
NM_032525.3(TUBB6):c.1228G>A (p.Glu410Lys)
NM_032525.3(TUBB6):c.375G>C (p.Glu125Asp)
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) rs1589568530
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) rs1589441679
NM_032709.3(PYROXD2):c.1062+2T>G
NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly) rs1776724608
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_052867.4(NALCN):c.2364+4A>T rs2139645297
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_130837.3(OPA1):c.3032T>C (p.Leu1011Pro) rs2109460739
NM_144499.3(GNAT1):c.508G>T (p.Val170Leu) rs149647295
NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn) rs1568572298
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) rs1594865719
NM_152490.5(B3GALNT2):c.815C>T (p.Ala272Val) rs1558417340
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216
NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del) rs1228744373
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) rs1191958022
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) rs896249235
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_173630.4(RTTN):c.5186-1G>C
NM_173630.4(RTTN):c.6154-16_6154-13del rs765143937
NM_173660.5(DOK7):c.533-2A>G
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln) rs765237979
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met) rs1775879070
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile) rs1311732049
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys) rs747526311
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.716+5G>A rs1057518298
NM_177965.4(CFAP418):c.3G>A (p.Met1Ile) rs1249678588
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
NM_178014.4(TUBB):c.852del (p.Thr285fs)
NM_181503.3(EXOSC8):c.17+1G>T rs1412754843
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys) rs1554534086
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
NM_181789.4(GLDN):c.363+1G>A rs556661550
NM_182931.3(KMT2E):c.1239del (p.Asn414fs) rs1584768283
NM_182931.3(KMT2E):c.1603del (p.Leu535fs) rs1584783327
NM_182931.3(KMT2E):c.167del (p.Tyr56fs) rs1584745301
NM_182931.3(KMT2E):c.1812del (p.Ile605fs) rs1584796727
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_182931.3(KMT2E):c.3193_3230del (p.Ser1065fs) rs1584805738
NM_182931.3(KMT2E):c.3198del (p.Trp1067fs) rs1584805745
NM_182931.3(KMT2E):c.3527_3530del (p.Thr1176fs) rs1584807875
NM_182931.3(KMT2E):c.4126C>T (p.Pro1376Ser) rs1584816566
NM_182931.3(KMT2E):c.418G>A (p.Val140Ile) rs74375534
NM_182931.3(KMT2E):c.4485_4486del (p.Gln1496fs) rs1584817845
NM_182931.3(KMT2E):c.450del (p.Asp150fs) rs1584751179
NM_182931.3(KMT2E):c.4829del (p.Leu1610fs) rs1243172283
NM_182931.3(KMT2E):c.5453_5460del (p.Val1818fs) rs1584821980
NM_182931.3(KMT2E):c.556+1G>A rs1584761229
NM_182931.3(KMT2E):c.850T>C (p.Tyr284His) rs868001076
NM_182931.3(KMT2E):c.997del (p.Glu333fs) rs1584765943
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln) rs762873672
NM_183075.3(CYP2U1):c.1547del (p.Pro516fs)
NM_198535.3(ZNF699):c.175+1G>A rs749115647
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp) rs772819260
NM_201378.4(PLEC):c.-2_22del (p.Met1_Glu8del)
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1959G>A (p.Trp653Ter) rs2148657996
NM_205768.3(ZBTB18):c.1307G>T (p.Arg436Leu) rs1572531765
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) rs111033273
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) rs886043096
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) rs768233523
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) rs398124620
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys) rs1026326311
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) rs773379163
NM_207037.2(TCF12):c.1991del (p.Asn664fs)
NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)
NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp) rs2103649867
NM_213599.3(ANO5):c.2411G>C (p.Cys804Ser) rs1233836740
NM_213599.3(ANO5):c.395A>T (p.Lys132Met) rs1852872996
Single allele

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