ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_020366.4(RPGRIP1):c.218+1G>T rs546692544 0.00004
NM_205861.3(DHDDS):c.441-24A>G rs764831063 0.00004
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser) rs763915205 0.00002
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_000180.4(GUCY2D):c.2182G>A (p.Asp728Asn) rs766646217 0.00001
NM_000329.3(RPE65):c.11+2T>G rs778768116 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) rs1209634994 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.965+2T>C rs755370981 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_005219.5(DIAPH1):c.145-1G>A rs763349669 0.00001
NM_014336.5(AIPL1):c.465+1G>A rs887335730 0.00001
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) rs762958757 0.00001
NM_018418.5(SPATA7):c.20-1G>A rs554224437 0.00001
NM_020366.4(RPGRIP1):c.1467+1G>A rs1167313603 0.00001
NM_020366.4(RPGRIP1):c.86-1G>A rs200968268 0.00001
NM_020366.4(RPGRIP1):c.931-2A>G rs374188857 0.00001
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) rs757724544 0.00001
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe) rs1337014971 0.00001
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919 0.00001
NM_152419.3(HGSNAT):c.118+1G>A rs1324229618 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile) rs1206574200 0.00001
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) rs768905244 0.00001
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) rs1180527322 0.00001
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys) rs62645755 0.00001
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) rs766989894 0.00001
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) rs767368951 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg) rs762835866 0.00001
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser) rs771079655 0.00001
NM_201253.3(CRB1):c.849-2A>G rs988534225 0.00001
NM_205861.3(DHDDS):c.658-2A>G rs1248671884 0.00001
NC_000001.10:g.(?_197297542)_(197298143_?)del
NC_000001.10:g.(?_197313391)_(197411442_?)dup
NC_000001.10:g.(?_197325941)_(197326163_?)del
NC_000001.10:g.(?_197325951)_(197326153_?)del
NC_000001.10:g.(?_197446965)_(197449864_?)del
NC_000001.10:g.(?_26784272)_(26784406_?)del
NC_000002.11:g.(?_27681067)_(27687103_?)del
NC_000002.11:g.(?_27686032)_(27686703_?)del
NC_000003.11:g.(?_148888289)_(148904456_?)del
NC_000003.11:g.(?_97498983)_(97499084_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000008.10:g.(?_43033197)_(43033397_?)dup
NC_000010.10:g.(?_126089389)_(126090428_?)dup
NC_000014.8:g.(?_21766946)_(21770647_?)del
NC_000014.8:g.(?_21769105)_(21794352_?)dup
NC_000014.8:g.(?_21798388)_(21798566_?)dup
NC_000014.8:g.(?_21819243)_(21819375_?)del
NC_000014.8:g.(?_68191277)_(68191485_?)del
NC_000014.8:g.(?_68195898)_(68200575_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NM_000096.4(CP):c.2078-75_2241del
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000180.4(GUCY2D):c.1026+2T>C
NM_000180.4(GUCY2D):c.1567-1G>C rs2151801050
NM_000180.4(GUCY2D):c.1749+1G>A rs2151801563
NM_000180.4(GUCY2D):c.1750-12_1752del
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.2263+1G>A
NM_000180.4(GUCY2D):c.2264-1G>A
NM_000180.4(GUCY2D):c.2412+2T>C rs2151803131
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala) rs2151803362
NM_000180.4(GUCY2D):c.2576+1G>A
NM_000180.4(GUCY2D):c.2577-2A>G
NM_000180.4(GUCY2D):c.2769+1G>A
NM_000180.4(GUCY2D):c.2770-34_2925del
NM_000180.4(GUCY2D):c.3020C>T (p.Ser1007Leu)
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000274.4(OAT):c.198_199+6delinsTTAA rs1554867698
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.4(OAT):c.424+1G>A
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)
NM_000274.4(OAT):c.520+1G>T rs2134476814
NM_000274.4(OAT):c.648+1G>A rs1951546023
NM_000274.4(OAT):c.649-1G>C rs551144161
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.4(OAT):c.771+2T>C
NM_000274.4(OAT):c.771_771+7del rs1564731646
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.772-1G>T rs770390524
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) rs121965041
NM_000274.4(OAT):c.881_900+51del rs1951451290
NM_000274.4(OAT):c.901-1G>A rs1951420329
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000329.3(RPE65):c.1021T>A (p.Leu341Ile)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.1129-1G>A
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.12-2A>T
NM_000329.3(RPE65):c.1243+1G>A rs1421696563
NM_000329.3(RPE65):c.1243+1G>C
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1339-2A>G
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) rs1395763356
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) rs2100806889
NM_000329.3(RPE65):c.209T>C (p.Phe70Ser) rs1645945363
NM_000329.3(RPE65):c.354-1G>A rs2100827985
NM_000329.3(RPE65):c.354-1G>T rs2100827985
NM_000329.3(RPE65):c.354-2del rs2100827990
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.643+2T>A rs1645896934
NM_000329.3(RPE65):c.644-2A>G
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.859-2A>C
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.463dup (p.Thr155fs) rs2123743110
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) rs767273026
NM_001199107.2(TBC1D24):c.1302+1G>T
NM_001199107.2(TBC1D24):c.1303-2A>G rs2141876985
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser) rs1489466696
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.965+1G>T
NM_001199107.2(TBC1D24):c.983+1G>C rs2141873582
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001278293.3(ARL6):c.123+1G>A
NM_001278293.3(ARL6):c.254+1G>A
NM_001278293.3(ARL6):c.255-1_256del
NM_001278293.3(ARL6):c.350-13_350-2del rs1576465252
NM_001278293.3(ARL6):c.350-2A>C
NM_001278293.3(ARL6):c.479+1G>A rs1324418374
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.442A>G (p.Thr148Ala)
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_005219.5(DIAPH1):c.1044+1G>A
NM_005219.5(DIAPH1):c.1280+2T>G rs2154596416
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.402+2T>C rs2154596613
NM_005219.5(DIAPH1):c.533+1G>T
NM_005219.5(DIAPH1):c.621-2A>G rs2099896905
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu) rs1064794308
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.466-1G>C rs1567637467
NM_014336.5(AIPL1):c.809G>A (p.Arg270His)
NM_014336.5(AIPL1):c.97-1G>A
NM_015662.3(IFT172):c.1167+1G>A
NM_015662.3(IFT172):c.1221+1G>A
NM_015662.3(IFT172):c.1222-1G>A
NM_015662.3(IFT172):c.1326-1G>A
NM_015662.3(IFT172):c.1411+2T>C
NM_015662.3(IFT172):c.1524+2_1524+3del rs769575051
NM_015662.3(IFT172):c.1693-1G>A
NM_015662.3(IFT172):c.184-2A>C rs2148559396
NM_015662.3(IFT172):c.2116-2A>G
NM_015662.3(IFT172):c.2521+1G>A
NM_015662.3(IFT172):c.2521+1G>T rs2148505406
NM_015662.3(IFT172):c.3111+1G>T
NM_015662.3(IFT172):c.336+2T>G
NM_015662.3(IFT172):c.3712-2A>T
NM_015662.3(IFT172):c.3822-2_3822-1del
NM_015662.3(IFT172):c.3952-1G>C rs2148479160
NM_015662.3(IFT172):c.402+2T>C
NM_015662.3(IFT172):c.4051-1G>A rs1665487115
NM_015662.3(IFT172):c.4311+1G>A rs2148477195
NM_015662.3(IFT172):c.4429-178_4436del
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)
NM_015662.3(IFT172):c.4815+1G>A
NM_015662.3(IFT172):c.4815+2_4815+3del rs2148467424
NM_015662.3(IFT172):c.482+1G>A
NM_015662.3(IFT172):c.4914+1G>A
NM_015662.3(IFT172):c.5069-2A>G rs2148464837
NM_015662.3(IFT172):c.570+1G>A
NM_015662.3(IFT172):c.786-2A>G
NM_015662.3(IFT172):c.786-2A>T
NM_015662.3(IFT172):c.910-2A>G rs2148546998
NM_016356.5(DCDC2):c.426-2A>G rs2113838226
NM_018418.5(SPATA7):c.1082+2del
NM_018418.5(SPATA7):c.1361dup (p.Asn454fs) rs2077137130
NM_018418.5(SPATA7):c.372+1G>A
NM_018418.5(SPATA7):c.94+1G>C
NM_018418.5(SPATA7):c.94+2T>C rs786204787
NM_020366.4(RPGRIP1):c.1763-2A>G
NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)
NM_020366.4(RPGRIP1):c.219-2A>G rs1880999471
NM_020366.4(RPGRIP1):c.2215+2T>C
NM_020366.4(RPGRIP1):c.2216-1G>A rs970696880
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020366.4(RPGRIP1):c.3533-2A>G
NM_022787.4(NMNAT1):c.115+1G>A rs779434083
NM_022787.4(NMNAT1):c.115+1G>C
NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp) rs1641702737
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_152419.3(HGSNAT):c.1013-1G>C rs1804147747
NM_152419.3(HGSNAT):c.1129-11_1134del
NM_152419.3(HGSNAT):c.118+2T>C rs2130648749
NM_152419.3(HGSNAT):c.118+5G>A rs1174944521
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1378-2A>G rs2130810560
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1543-2A>G rs1804769861
NM_152419.3(HGSNAT):c.1614-1G>C
NM_152419.3(HGSNAT):c.1614-2A>T rs1554537807
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr) rs2130821593
NM_152419.3(HGSNAT):c.1726+1G>A
NM_152419.3(HGSNAT):c.563+1G>C
NM_152419.3(HGSNAT):c.563+2T>A rs2130722124
NM_152419.3(HGSNAT):c.564-1G>A
NM_152419.3(HGSNAT):c.634-2A>G
NM_152419.3(HGSNAT):c.744-2A>C
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser) rs767574122
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
NM_152419.3(HGSNAT):c.820+1G>A
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser) rs2130754863
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro) rs749038454
NM_152443.3(RDH12):c.188-1G>A rs2140142183
NM_152443.3(RDH12):c.188-2A>G
NM_152443.3(RDH12):c.449-2A>G rs2140145138
NM_152443.3(RDH12):c.559G>A (p.Asp187Asn)
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)
NM_152443.3(RDH12):c.648_658+20del rs878853341
NM_152443.3(RDH12):c.659-1G>A
NM_152443.3(RDH12):c.659-2A>C rs2038231425
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.69-1G>A rs373279009
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) rs2038317129
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
NM_201253.3(CRB1):c.1171+1G>A
NM_201253.3(CRB1):c.1172-1G>T rs2125468776
NM_201253.3(CRB1):c.1172-2A>G rs2125468772
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) rs1664290387
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) rs1664290387
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val) rs1277758473
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu) rs2125470125
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) rs1571524102
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) rs757279881
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) rs2125471502
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) rs779069205
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) rs748175297
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
NM_201253.3(CRB1):c.2128+1G>C rs2125472205
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) rs1664649489
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) rs62635653
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser) rs2125483920
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) rs1664671663
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) rs772476137
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp) rs757137398
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) rs1664678030
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) rs2125485441
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) rs1558133731
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) rs1664775504
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
NM_201253.3(CRB1):c.2842+2T>C rs2125489334
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
NM_201253.3(CRB1):c.2843-1G>T rs878853368
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr) rs2125498956
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) rs1450635782
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
NM_201253.3(CRB1):c.3749+1G>A rs2125501295
NM_201253.3(CRB1):c.3749+2_3749+3del rs1665120314
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) rs1665279918
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) rs533997742
NM_201253.3(CRB1):c.3878+1G>A rs748927280
NM_201253.3(CRB1):c.3878+2dup rs1665282720
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp) rs1665487563
NM_201253.3(CRB1):c.4006-1G>C rs752804194
NM_201253.3(CRB1):c.4130G>A (p.Gly1377Glu)
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp) rs1490587812
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_201253.3(CRB1):c.652+3_652+6del rs1658700284
NM_201253.3(CRB1):c.70+2T>A rs1654723466
NM_201253.3(CRB1):c.71-2A>G rs1383691293
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu) rs2075181154
NM_205861.3(DHDDS):c.323+2_323+5del
NM_205861.3(DHDDS):c.441-2A>T rs922956992
NM_205861.3(DHDDS):c.650_657+54del
NM_205861.3(DHDDS):c.657+1G>A

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