ClinVar Miner

List of variants reported as likely pathogenic by NIHR Bioresource Rare Diseases,University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 387
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HGVS dbSNP
46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)
NC_000006.11:g.65133931_65156120dup
NC_000019.9:g.54622548_54633842del11295
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000180.3(GUCY2D):c.238_252delGCCGCCGCCCGCCTG (p.Ala80_Leu84del) rs952193754
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.3(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668
NM_000180.3(GUCY2D):c.3098_3099insCGTGCTCT (p.Gly1034Valfs) rs1555635925
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) rs1555051390
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000283.3(PDE6B):c.1107+3A>G rs370898371
NM_000283.3(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.3(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.3(PDE6B):c.1A>G (p.Met1Val) rs781003757
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe) rs753657349
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) rs1554268546
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291
NM_000328.3(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_000328.3(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+1548G>T rs1555961220
NM_000328.3(RPGR):c.1905+345_1905+346del rs1555961849
NM_000328.3(RPGR):c.633del (p.Tyr212fs) rs1555966753
NM_000328.3(RPGR):c.779-3C>A rs1555965712
NM_000328.3(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.4129-1G>A rs1553189507
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg) rs1553188682
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg) rs1435203678
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=) rs367857935
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser) rs1297857869
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu) rs1553186509
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000350.3(ABCA4):c.719T>G (p.Ile240Arg) rs1553195472
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000390.4(CHM):c.315-1536A>G rs1555955061
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000409.4(GUCA1A):c.332A>C (p.Glu111Ala) rs1554186385
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991
NM_000554.6(CRX):c.295C>T (p.Gln99Ter) rs1555801963
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000843.4(GRM6):c.118_132del (p.Thr40_Leu44del) rs1237461749
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197
NM_001023570.4(IQCB1):c.1278+1G>A rs1553711564
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001023570.4(IQCB1):c.260T>G (p.Leu87Ter) rs1553722736
NM_001030311.2(CERKL):c.1151+3_1151+6delAAGT rs1553513437
NM_001030311.2(CERKL):c.1347-3C>G rs1553512879
NM_001030311.2(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001079878.2(CNGA3):c.107_110del (p.His36fs) rs749036398
NM_001079878.2(CNGA3):c.1351G>A (p.Ala451Thr) rs117522010
NM_001079878.2(CNGA3):c.1634G>A (p.Arg545His) rs552069173
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro) rs146195955
NM_001134831.2(AHI1):c.1912+1488_2036+506del
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu) rs1554338016
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter) rs773278338
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001142800.2(EYS):c.1211del (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6726-2973_6834+548del
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145847.2(PROM1):c.1090C>T (p.Arg364Cys) rs137853006
NM_001145847.2(PROM1):c.1148_1149AT[1] (p.Ile384fs) rs746174328
NM_001145847.2(PROM1):c.1683C>A (p.Tyr561Ter) rs201644238
NM_001145847.2(PROM1):c.975+5G>A rs1196489060
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001201543.2(FAM161A):c.674_677GAAG[1] (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.782del (p.Asp261fs) rs1178184685
NM_001252020.1(TRPM1):c.669+3_669+6delAAGT rs781610444
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395
NM_001278431.2(C1QTNF5):c.556C>T (p.Pro186Ser) rs1555036138
NM_001278431.2(C1QTNF5):c.569C>G (p.Ser190Trp) rs906525288
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) rs1555488573
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) rs1555488069
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) rs750620302
NM_001297.5(CNGB1):c.761+2T>A rs1555493707
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp) rs144437882
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_002335.4(LRP5):c.1265C>T (p.Ala422Val) rs761919591
NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg) rs1308485193
NM_002420.6(TRPM1):c.3004A>T (p.Ile1002Phe) rs369484186
NM_002420.6(TRPM1):c.3089G>A (p.Cys1030Tyr) rs1555418784
NM_002420.6(TRPM1):c.3108T>A (p.Asp1036Glu) rs748046539
NM_002420.6(TRPM1):c.3148dup (p.Trp1050fs) rs770380556
NM_002420.6(TRPM1):c.314G>A (p.Gly105Glu) rs1555424849
NM_002420.6(TRPM1):c.766G>A (p.Gly256Arg) rs1555424166
NM_002473.5(MYH9):c.1119G>C (p.Lys373Asn)
NM_002473.5(MYH9):c.220A>G (p.Lys74Glu)
NM_002473.5(MYH9):c.2507C>T (p.Pro836Leu)
NM_002473.5(MYH9):c.2668del (p.Gln890fs)
NM_002473.5(MYH9):c.4340A>T (p.Asp1447Val) rs797044804
NM_002473.5(MYH9):c.5800del (p.Met1934fs)
NM_002473.5(MYH9):c.5808del (p.Gly1938fs)
NM_002473.5(MYH9):c.97T>G (p.Trp33Gly)
NM_002900.3(RBP3):c.826_828TTC[2] (p.Phe278del) rs782604129
NM_003990.5(PAX2):c.1001C>T (p.Ala334Val) rs78738655
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro) rs111733491
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr) rs759025536
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) rs567435284
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024
NM_005183.3(CACNA1F):c.1466_1496+7del rs1557109912
NM_005183.4(CACNA1F):c.1338_1339insT (p.Arg447Ter) rs1557110046
NM_005183.4(CACNA1F):c.1538_1542del (p.Arg513fs) rs1557109796
NM_005183.4(CACNA1F):c.2766+1G>A rs1557108147
NM_005183.4(CACNA1F):c.3213T>G (p.Asn1071Lys) rs1557107417
NM_005183.4(CACNA1F):c.3341_3342del (p.Ser1114fs) rs1557107192
NM_005183.4(CACNA1F):c.3628C>T (p.Gln1210Ter) rs782362725
NM_005183.4(CACNA1F):c.3886C>T (p.Arg1296Cys) rs1557106557
NM_005183.4(CACNA1F):c.4472C>T (p.Pro1491Leu) rs1557106008
NM_005183.4(CACNA1F):c.784C>T (p.Arg262Ter) rs1557110988
NM_005183.4(CACNA1F):c.946_948TTC[2] (p.Phe318del) rs1557110499
NM_005272.4(GNAT2):c.906C>A (p.Tyr302Ter) rs1553226355
NM_006204.3(PDE6C):c.1847+3_1847+6delAAGT rs1554890513
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu) rs1554888858
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter) rs1554888861
NM_006204.4(PDE6C):c.864+1G>A rs1023522305
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2083del (p.Ile695fs) rs1554519538
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) rs1554519577
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.2(RP1):c.5883del (p.Thr1962fs) rs1554520068
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly) rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006744.4(RBP4):c.248+1G>A rs111785373
NM_006915.3(RP2):c.11_13TCT[1] (p.Phe5del) rs1556313414
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) rs1556318627
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.43del (p.Ser15fs) rs1556313474
NM_007348.4(ATF6):c.1018G>C (p.Ala340Pro) rs749537392
NM_007348.4(ATF6):c.417dup (p.Asn140Ter) rs765383904
NM_012106.4(ARL2BP):c.207+1G>A rs199830550
NM_012338.4(TSPAN12):c.225_227del (p.Ile76del) rs1171910750
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014249.4(NR2E3):c.119-2A>C rs2723341
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123
NM_015120.4(ALMS1):c.2958_2959insCTATTCTGGACTG (p.Gly987fs) rs1553403585
NM_015629.4(PRPF31):c.1129del (p.Arg377fs) rs1555794302
NM_015629.4(PRPF31):c.1147-153_1196del rs1555794509
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) rs1555791188
NM_015629.4(PRPF31):c.359del (p.Lys120fs) rs1555792415
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) rs1555793207
NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) rs1553687058
NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) rs1553681348
NM_016247.4(IMPG2):c.2928del (p.Asn976fs) rs770339774
NM_016247.4(IMPG2):c.3023-6_3030dup rs754995805
NM_019098.4(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087
NM_019098.4(CNGB3):c.2103+1G>A rs1554604767
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539
NM_020366.3(RPGRIP1):c.2890del (p.Ser964fs) rs1555302710
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.3(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_022567.2(NYX):c.936C>G (p.Asn312Lys) rs1555967263
NM_022567.2(NYX):c.992_997TCTTCC[1] (p.331_332LF[1]) rs1555967281
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1713del (p.Gly572fs) rs1555050487
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_030582.3(COL18A1):c.3364_3371delGGCCCCCC (p.Gly1122Argfs) rs1555874538
NM_030582.4(COL18A1):c.2437-2A>G rs778612831
NM_030582.4(COL18A1):c.2908C>T (p.Arg970Ter) rs1555870809
NM_030582.4(COL18A1):c.3213del (p.Gly1072fs) rs749009747
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_031433.4(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_033100.4(CDHR1):c.1448A>G (p.Glu483Gly) rs1554857529
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) rs1477733493
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg) rs977790637
NM_145200.4(CABP4):c.673C>T (p.Arg225Ter) rs531851447
NM_145200.4(CABP4):c.800-18_*795del rs1554998040
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys) rs1238632042
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.2(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) rs776788104
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) rs267598278
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) rs1553260517
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040
NM_201253.3(CRB1):c.2220dup (p.Met741fs) rs1553261468
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr) rs1553249226
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.613+4_613+5del rs766131721
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10183-1375_10387+1389del
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.3(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.3(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.3(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.3158-6A>G rs397518010
NM_206933.3(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.3(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.3(USH2A):c.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.3(USH2A):c.8223+1G>C rs1553273280
NM_206933.3(USH2A):c.9259-503_9371+1650del
NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
Single allele

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