ClinVar Miner

List of variants reported as uncertain significance by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 305
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_000313.4(PROS1):c.698G>A (p.Arg233Lys) rs41267007 0.00202
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_000552.5(VWF):c.1463C>G (p.Ala488Gly) rs144817575 0.00098
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000313.4(PROS1):c.76+7A>G rs201928951 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000128.4(F11):c.1305-5C>T rs375998777 0.00032
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001130004.2(ACTN1):c.2587-26C>T rs752352598 0.00018
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_001060.6(TBXA2R):c.713A>G (p.Asp238Gly) rs201310328 0.00016
NM_000552.5(VWF):c.7849C>A (p.Leu2617Met) rs371948517 0.00013
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000130.5(F5):c.1128G>T (p.Arg376Ser) rs373172802 0.00010
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000132.4(F8):c.3980C>T (p.Thr1327Met) rs200520711 0.00009
NM_000185.4(SERPIND1):c.1333G>C (p.Val445Leu) rs137958110 0.00009
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) rs200358667 0.00005
NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile) rs200605188 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000552.5(VWF):c.1901C>T (p.Ala634Val) rs761282513 0.00004
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_021870.3(FGG):c.447C>A (p.Asn149Lys) rs751435976 0.00004
NM_000130.5(F5):c.4862G>A (p.Arg1621Gln) rs764766417 0.00003
NM_000130.5(F5):c.5621T>C (p.Met1874Thr) rs377129476 0.00003
NM_000132.4(F8):c.6901-725T>C rs1393847621 0.00003
NM_000312.4(PROC):c.386G>A (p.Arg129His) rs746190838 0.00003
NM_000312.4(PROC):c.571G>C (p.Glu191Gln) rs777364878 0.00003
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.137T>C (p.Leu46Pro) rs779469907 0.00003
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000313.4(PROS1):c.77-1346A>G rs767606472 0.00003
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000552.5(VWF):c.6421G>A (p.Val2141Ile) rs923531708 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000934.4(SERPINF2):c.64-3C>T rs1173047022 0.00003
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter) rs770266168 0.00003
NM_018297.4(NGLY1):c.758G>T (p.Cys253Phe) rs771354261 0.00003
NM_030773.4(TUBB1):c.554C>T (p.Ala185Val) rs146846923 0.00003
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg) rs374928728 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000361.3(THBD):c.1433C>T (p.Thr478Ile) rs574192210 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_022788.5(P2RY12):c.600T>G (p.Ile200Met) rs943960274 0.00002
NM_030773.4(TUBB1):c.28G>C (p.Gly10Arg) rs747029495 0.00002
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg) rs371852125 0.00002
NM_181507.2(HPS5):c.2718-12A>G rs759757206 0.00002
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) rs781502355 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000361.3(THBD):c.1357G>A (p.Gly453Arg) rs1189569754 0.00001
NM_000407.5(GP1BB):c.212C>T (p.Pro71Leu) rs1424014771 0.00001
NM_000407.5(GP1BB):c.434C>G (p.Pro145Arg) rs1051842719 0.00001
NM_000407.5(GP1BB):c.515T>C (p.Leu172Pro) rs750315624 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.3099A>T (p.Glu1033Asp) rs757116551 0.00001
NM_000419.5(ITGA2B):c.624+5G>A rs373730428 0.00001
NM_000504.4(F10):c.535C>T (p.Arg179Cys) rs1277295882 0.00001
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu) rs932134873 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr) rs759805079 0.00001
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg) rs746837624 0.00001
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740 0.00001
NM_001130004.2(ACTN1):c.1159C>T (p.Arg387Trp) rs1594768518 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr) rs753406078 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys) rs775434135 0.00001
NM_005141.5(FGB):c.1058A>G (p.Lys353Arg) rs763287118 0.00001
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His) rs1362658024 0.00001
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=) rs1320380958 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_024747.6(HPS6):c.1498G>A (p.Gly500Arg) rs772897521 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720 0.00001
46,XX,der(X)(p22.13,p22.13)dn.seq[GRCh37/hg19]der(X)(Xpter->Xp22.13(+)(18074005)::GCA...CAC{100}::p22.13(-)(18532312),p22.13(-)(17793009)::p22.13(+)(18248956)->Xqter)dn
NC_000002.12:g.203867482_203869297del
NC_000002.12:g.203870597_203875386del
NC_000022.11:g.19721912_19724790del
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn) rs1283517835
NM_000128.4(F11):c.-2G>C rs1580057911
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
NM_000128.4(F11):c.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.4(F11):c.1192G>A (p.Glu398Lys) rs746475013
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys) rs755529772
NM_000128.4(F11):c.1699G>A (p.Gly567Arg) rs1580108251
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) rs773581347
NM_000128.4(F11):c.1772G>C (p.Gly591Ala) rs1580110270
NM_000128.4(F11):c.634G>A (p.Asp212Asn) rs1580080555
NM_000130.5(F5):c.1975G>A (p.Gly659Arg) rs759167620
NM_000130.5(F5):c.333C>A (p.Ser111Arg) rs1571598716
NM_000130.5(F5):c.358A>G (p.Ser120Gly) rs1571598694
NM_000130.5(F5):c.4744T>A (p.Tyr1582Asn) rs1571572228
NM_000130.5(F5):c.773T>C (p.Leu258Pro) rs975505802
NM_000132.4(F8):c.5164G>A (p.Val1722Met) rs1603433719
NM_000132.4(F8):c.5587-98G>A rs1603432993
NM_000132.4(F8):c.6751G>A (p.Val2251Met) rs1603431480
NM_000132.4(F8):c.788-14T>G rs1603435417
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.740A>C (p.Lys247Thr) rs1603267173
NM_000173.7(GP1BA):c.200T>G (p.Leu67Arg) rs1597638430
NM_000180.4(GUCY2D):c.901_908del (p.Leu301fs) rs1555634713
NM_000212.3(ITGB3):c.1302G>C (p.Gln434His) rs1598694591
NM_000212.3(ITGB3):c.1447T>C (p.Cys483Arg) rs1598694712
NM_000212.3(ITGB3):c.2128G>A (p.Glu710Lys) rs1471737872
NM_000212.3(ITGB3):c.2224A>G (p.Lys742Glu) rs1598702813
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) rs1582940083
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) rs1582955692
NM_000301.5(PLG):c.950+4A>G rs1582937995
NM_000312.4(PROC):c.1313T>C (p.Val438Ala) rs1573461697
NM_000312.4(PROC):c.673T>G (p.Trp225Gly) rs1277271891
NM_000312.4(PROC):c.819G>T (p.Trp273Cys) rs1573459299
NM_000312.4(PROC):c.908T>G (p.Leu303Arg) rs1573459781
NM_000313.4(PROS1):c.1112T>C (p.Ile371Thr) rs1164683109
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys) rs1576175763
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1681C>G (p.Arg561Gly) rs121918476
NM_000313.4(PROS1):c.1973A>G (p.His658Arg) rs1576170541
NM_000313.4(PROS1):c.511T>G (p.Cys171Gly) rs1576186985
NM_000313.4(PROS1):c.550del (p.Cys184fs) rs1576186962
NM_000361.3(THBD):c.778C>G (p.Pro260Ala) rs1362772246
NM_000377.3(WAS):c.217T>A (p.Cys73Ser) rs1602176652
NM_000407.5(GP1BB):c.106C>T (p.Leu36Phe) rs1601248319
NM_000407.5(GP1BB):c.307T>C (p.Trp103Arg) rs1464643023
NM_000407.5(GP1BB):c.407A>G (p.Glu136Gly) rs1601248880
NM_000419.5(ITGA2B):c.188+5G>T rs1598385156
NM_000419.5(ITGA2B):c.2569T>C (p.Cys857Arg) rs1598376647
NM_000419.5(ITGA2B):c.2750C>G (p.Thr917Ser) rs1598376124
NM_000419.5(ITGA2B):c.2995T>C (p.Trp999Arg) rs1598375569
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000460.4(THPO):c.610dup (p.Glu204fs) rs776536238
NM_000460.4(THPO):c.805dup (p.Leu269fs) rs1577354471
NM_000488.4(SERPINC1):c.1301T>G (p.Phe434Cys) rs1572084546
NM_000488.4(SERPINC1):c.797C>A (p.Thr266Lys) rs1572088824
NM_000488.4(SERPINC1):c.851T>A (p.Met284Lys) rs1572088737
NM_000504.4(F10):c.1237G>A (p.Asp413Asn) rs1595099677
NM_000504.4(F10):c.1321G>A (p.Glu441Lys) rs1305872315
NM_000504.4(F10):c.241T>G (p.Trp81Gly) rs1595092916
NM_000504.4(F10):c.702G>C (p.Arg234Ser) rs1595096266
NM_000552.5(VWF):c.182T>C (p.Leu61Pro) rs1306914162
NM_000552.5(VWF):c.1841C>T (p.Ser614Phe) rs776987924
NM_000552.5(VWF):c.2299T>C (p.Cys767Arg) rs1591880825
NM_000552.5(VWF):c.2686-7T>G rs1591871882
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp) rs1591867991
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.4473G>C (p.Lys1491Asn) rs1591862624
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg) rs1591862393
NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn) rs1591862230
NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro) rs1591862118
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr) rs1591849732
NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile) rs761604165
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys) rs779764302
NM_000552.5(VWF):c.6538T>C (p.Tyr2180His) rs1591848338
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp) rs1232884671
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.814G>C (p.Ala272Pro) rs747799959
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg) rs1591827147
NM_000552.5(VWF):c.8275A>G (p.Met2759Val) rs776211115
NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu) rs1591826730
NM_000930.5(PLAT):c.1271G>T (p.Ser424Ile) rs1587928114
NM_000930.5(PLAT):c.826C>T (p.Pro276Ser) rs367827951
NM_001060.6(TBXA2R):c.340TTC[1] (p.Phe115del) rs775726146
NM_001060.6(TBXA2R):c.848C>G (p.Ser283Cys) rs201364793
NM_001083899.2(GP6):c.278del (p.Gly93fs) rs1321226182
NM_001099274.3(TINF2):c.1061+1G>T rs1594550523
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro) rs1830718809
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) rs1829096574
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) rs994887264
NM_001114753.3(ENG):c.776T>G (p.Val259Gly) rs895393705
NM_001130004.2(ACTN1):c.1027A>T (p.Thr343Ser) rs1594771139
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg) rs1594768482
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) rs1454176065
NM_001130004.2(ACTN1):c.1600G>C (p.Asp534His) rs1594758027
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys) rs867564562
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala) rs1594751712
NM_001130004.2(ACTN1):c.2267A>G (p.Asn756Ser) rs1594751627
NM_001130004.2(ACTN1):c.299T>C (p.Ile100Thr) rs1594816590
NM_001130004.2(ACTN1):c.415A>G (p.Ile139Val) rs1594803107
NM_001130004.2(ACTN1):c.650A>G (p.Asp217Gly) rs1594790030
NM_001130004.2(ACTN1):c.652A>G (p.Ile218Val) rs1594790025
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg) rs1594773549
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser) rs1554202833
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001363.5(DKC1):c.1346G>A (p.Arg449Gln) rs1289430524
NM_001364905.1(LRBA):c.2258+3dup rs1579059712
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.595G>A (p.Gly199Arg) rs1601470582
NM_001987.5(ETV6):c.1043T>C (p.Leu348Ser) rs1591749381
NM_001987.5(ETV6):c.1251C>G (p.Phe417Leu) rs1591750603
NM_001987.5(ETV6):c.464-50_1009+50del rs1591735032
NM_001987.5(ETV6):c.791G>A (p.Arg264His) rs150621299
NM_002049.4(GATA1):c.816T>A (p.Asn272Lys) rs1602220724
NM_002049.4(GATA1):c.824G>C (p.Gly275Ala) rs1602220740
NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del) rs1603484057
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) rs1057520107
NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu) rs1603484050
NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn) rs777484384
NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup) rs1603482974
NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu) rs1603482935
NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala) rs1603482879
NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln) rs566978904
NM_002473.6(MYH9):c.4529T>G (p.Met1510Arg) rs1603482803
NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly) rs1603482754
NM_002473.6(MYH9):c.5032A>G (p.Met1678Val) rs901232499
NM_005141.4(FGB):c.586C>T (p.Arg196Cys) rs121909623
NM_005141.5(FGB):c.478A>C (p.Lys160Gln) rs1578782707
NM_005141.5(FGB):c.853C>T (p.Arg285Cys) rs1578784790
NM_005141.5(FGB):c.959G>A (p.Gly320Asp) rs1578785100
NM_014915.3(ANKRD26):c.-116C>T rs1589393739
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del) rs1203437621
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro) rs1575602690
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu) rs1320075072
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg) rs2036808727
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys) rs1001207491
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg) rs2037277207
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.3(NBEAL2):c.6656TCT[1] (p.Phe2220del) rs776748718
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro) rs377326649
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr) rs1405730457
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro) rs2037641398
NM_016204.4(GDF2):c.348T>C (p.Asp116=) rs2061098325
NM_018947.6(CYCS):c.308C>T (p.Thr103Ile) rs1583394618
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.739+7_739+43del rs1309684522
NM_021870.3(FGG):c.185T>C (p.Val62Ala) rs1578812818
NM_021870.3(FGG):c.622T>C (p.Cys208Arg) rs1578810954
NM_021870.3(FGG):c.952G>A (p.Gly318Ser) rs267606810
NM_022436.3(ABCG5):c.775-3C>G rs764907076
NM_022788.5(P2RY12):c.524G>A (p.Cys175Tyr) rs1577367042
NM_024747.6(HPS6):c.1006G>T (p.Asp336Tyr) rs772000976
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_030773.4(TUBB1):c.1041C>G (p.Asn347Lys) rs1421750582
NM_030773.4(TUBB1):c.305C>T (p.Ala102Val) rs1014420517
NM_030773.4(TUBB1):c.421G>C (p.Gly141Arg) rs778975827
NM_030773.4(TUBB1):c.483C>A (p.Asp161Glu) rs1601238822
NM_030773.4(TUBB1):c.752G>A (p.Arg251His) rs770226644
NM_030773.4(TUBB1):c.766A>G (p.Asn256Asp) rs1601239213
NM_030773.4(TUBB1):c.773T>C (p.Val258Ala) rs1601239226
NM_030773.4(TUBB1):c.862G>A (p.Glu288Lys) rs916577364
NM_139276.3(STAT3):c.812C>T (p.Ala271Val) rs1598415756
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) rs1598415635
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) rs1555566820
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr) rs145417421
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs) rs1553252328
NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr) rs780846352
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.4(USH2A):c.895del (p.Gln299fs) rs1338169194
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) rs1599746194

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