ClinVar Miner

List of variants studied for disorder of orbital region by Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine

Included ClinVar conditions (1200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 458
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000321.3(RB1):c.1961-12T>C rs201697122 0.00104
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) rs187912365 0.00051
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys) rs4151534 0.00014
NM_000321.3(RB1):c.1815-12A>G rs370482884 0.00006
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) rs137853294 0.00002
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) rs121913302 0.00001
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) rs751560923 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) rs374523971 0.00001
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) rs367654488 0.00001
NC_000013.11:g.48303678G>A
NG_009009.1:g.154289dupA rs1566233014
NG_009009.1:g.5168-?_5303+?(2)
NM_000321.3(RB1):c.-189G>T rs387906520
NM_000321.3(RB1):c.-197G>A
NM_000321.3(RB1):c.-197G>C
NM_000321.3(RB1):c.-197G>T
NM_000321.3(RB1):c.-198G>A rs387906521
NM_000321.3(RB1):c.-198_-189delinsAA
NM_000321.3(RB1):c.-206_-189del rs2138025895
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter) rs587778855
NM_000321.3(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.3(RB1):c.1027_1028del (p.Leu343fs)
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter)
NM_000321.3(RB1):c.103C>T (p.Gln35Ter) rs587778869
NM_000321.3(RB1):c.1049+1G>A rs587776782
NM_000321.3(RB1):c.1049+1G>T rs587776782
NM_000321.3(RB1):c.1050-1G>A
NM_000321.3(RB1):c.1050-1G>C
NM_000321.3(RB1):c.1050-1G>T
NM_000321.3(RB1):c.1050-2A>G
NM_000321.3(RB1):c.1050-2_1052del
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs) rs587778829
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.3(RB1):c.1084dup (p.Leu362fs)
NM_000321.3(RB1):c.109_112delinsCCAGA (p.Ser37fs)
NM_000321.3(RB1):c.1100del (p.Asn367fs)
NM_000321.3(RB1):c.1107T>C (p.Ile369=) rs587778856
NM_000321.3(RB1):c.1112del (p.Pro371fs)
NM_000321.3(RB1):c.1116del (p.His372fs)
NM_000321.3(RB1):c.1123G>T (p.Val375Phe)
NM_000321.3(RB1):c.1128-29_1128-4del
NM_000321.3(RB1):c.1128-2A>G rs1131690892
NM_000321.3(RB1):c.1133_1139del (p.Val378fs)
NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs) rs886037649
NM_000321.3(RB1):c.1147dup (p.Gln383fs) rs587778830
NM_000321.3(RB1):c.1158del (p.Met386fs)
NM_000321.3(RB1):c.1166T>A (p.Leu389Ter) rs587778845
NM_000321.3(RB1):c.1178del (p.Ser393fs)
NM_000321.3(RB1):c.1190C>G (p.Ser397Ter)
NM_000321.3(RB1):c.1199T>G (p.Leu400Arg)
NM_000321.3(RB1):c.1215+1G>A rs587776783
NM_000321.3(RB1):c.1215+1G>T rs587776783
NM_000321.3(RB1):c.1215+2T>C rs1060503074
NM_000321.3(RB1):c.1215+5G>A
NM_000321.3(RB1):c.1216-1G>A rs587778831
NM_000321.3(RB1):c.1216-3A>G
NM_000321.3(RB1):c.1219_1220delinsC (p.Cys407fs)
NM_000321.3(RB1):c.1221C>A (p.Cys407Ter)
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter) rs2138136261
NM_000321.3(RB1):c.1272C>A (p.Tyr424Ter)
NM_000321.3(RB1):c.1282del (p.Glu428fs)
NM_000321.3(RB1):c.1288_1289insA (p.Phe430fs)
NM_000321.3(RB1):c.1306C>T (p.Gln436Ter)
NM_000321.3(RB1):c.1310dup (p.Cys438fs)
NM_000321.3(RB1):c.1318G>T (p.Glu440Ter)
NM_000321.3(RB1):c.1322T>C (p.Ile441Thr)
NM_000321.3(RB1):c.1330C>T (p.Gln444Ter)
NM_000321.3(RB1):c.1331A>T (p.Gln444Leu)
NM_000321.3(RB1):c.1332+1G>A rs587778846
NM_000321.3(RB1):c.1332+1G>C
NM_000321.3(RB1):c.1332+1G>T rs587778846
NM_000321.3(RB1):c.1332+2T>G
NM_000321.3(RB1):c.1332G>A (p.Gln444=) rs1555286250
NM_000321.3(RB1):c.1333-1G>A rs2138140730
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.3(RB1):c.1346G>T (p.Gly449Val) rs587778847
NM_000321.3(RB1):c.1351_1354del (p.Arg451fs)
NM_000321.3(RB1):c.1357T>G (p.Tyr453Asp)
NM_000321.3(RB1):c.137+1G>A rs1131690855
NM_000321.3(RB1):c.137+1G>C
NM_000321.3(RB1):c.137G>A (p.Arg46Lys)
NM_000321.3(RB1):c.137G>C (p.Arg46Thr) rs2138028088
NM_000321.3(RB1):c.138-1G>A rs1593414337
NM_000321.3(RB1):c.138-2A>G
NM_000321.3(RB1):c.1389+1G>A
NM_000321.3(RB1):c.1389+1G>C rs1060503087
NM_000321.3(RB1):c.1389+1G>T rs1060503087
NM_000321.3(RB1):c.1389+2T>C
NM_000321.3(RB1):c.1389+4A>G
NM_000321.3(RB1):c.1390del
NM_000321.3(RB1):c.1393G>T (p.Glu465Ter)
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.13del (p.Thr5fs)
NM_000321.3(RB1):c.1400dup (p.Leu468fs)
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter)
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.3(RB1):c.1421+2T>G
NM_000321.3(RB1):c.1422-1G>A rs1461382798
NM_000321.3(RB1):c.1422-1_1428dup
NM_000321.3(RB1):c.1422-2A>C
NM_000321.3(RB1):c.1422-2A>G rs1395304450
NM_000321.3(RB1):c.1425del (p.Lys475fs)
NM_000321.3(RB1):c.1433del (p.Asn478fs)
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del) rs587776788
NM_000321.3(RB1):c.1439del (p.Asn480fs)
NM_000321.3(RB1):c.1448A>G (p.His483Arg)
NM_000321.3(RB1):c.1450_1451del (p.Met484fs) rs1948522792
NM_000321.3(RB1):c.1450_1451dup (p.Met484fs)
NM_000321.3(RB1):c.1454C>T (p.Ser485Phe)
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.3(RB1):c.1465T>C (p.Cys489Arg)
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr) rs1131690877
NM_000321.3(RB1):c.1470del (p.Glu492fs)
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.3(RB1):c.1494del (p.Thr497_Tyr498insTer)
NM_000321.3(RB1):c.1498+1G>A rs1131690909
NM_000321.3(RB1):c.1498+1G>T
NM_000321.3(RB1):c.1498+4A>T
NM_000321.3(RB1):c.1498+69_1498+80del
NM_000321.3(RB1):c.1499-1G>A
NM_000321.3(RB1):c.1499-3_1499del
NM_000321.3(RB1):c.1499del
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.3(RB1):c.1522del (p.Ser508fs)
NM_000321.3(RB1):c.1535dup (p.Leu512fs)
NM_000321.3(RB1):c.1536_1537del (p.Leu512fs)
NM_000321.3(RB1):c.1536del (p.Leu512fs)
NM_000321.3(RB1):c.1548G>A (p.Trp516Ter)
NM_000321.3(RB1):c.154dup (p.Thr52fs)
NM_000321.3(RB1):c.1555_1566del (p.Asn519_Asn522del)
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) rs2138145156
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter)
NM_000321.3(RB1):c.1573del (p.Ala525fs)
NM_000321.3(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.3(RB1):c.157_158del (p.Glu53fs)
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) rs1948534047
NM_000321.3(RB1):c.1589_1590del (p.Lys530fs)
NM_000321.3(RB1):c.1590del (p.Lys530_Val531insTer)
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter) rs1237070816
NM_000321.3(RB1):c.160G>T (p.Glu54Ter)
NM_000321.3(RB1):c.1613del (p.Ala538fs)
NM_000321.3(RB1):c.1630del (p.Arg544fs)
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) rs1948534542
NM_000321.3(RB1):c.1640_1643dup (p.Lys548fs)
NM_000321.3(RB1):c.1653_1657delinsG (p.Arg552fs)
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.3(RB1):c.166_170del (p.Asp56fs)
NM_000321.3(RB1):c.1680_1681insT (p.Leu561fs)
NM_000321.3(RB1):c.1688G>A (p.Trp563Ter) rs587778863
NM_000321.3(RB1):c.1688G>C (p.Trp563Ser)
NM_000321.3(RB1):c.1694C>T (p.Ser565Leu)
NM_000321.3(RB1):c.1695+1G>A rs587778857
NM_000321.3(RB1):c.1695+1G>C
NM_000321.3(RB1):c.1695+2T>A
NM_000321.3(RB1):c.1695+5del
NM_000321.3(RB1):c.1696-12T>G rs1060503088
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_000321.3(RB1):c.1699del (p.Ser567fs)
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.3(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.3(RB1):c.1710_1719del (p.Phe570fs)
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) rs587778864
NM_000321.3(RB1):c.1726_1729del (p.Ser576fs)
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.3(RB1):c.1738G>T (p.Glu580Ter) rs587778858
NM_000321.3(RB1):c.1741G>T (p.Gly581Ter)
NM_000321.3(RB1):c.1778_1779dup (p.Leu594fs)
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter) rs1566233076
NM_000321.3(RB1):c.1790dup (p.Asn598fs)
NM_000321.3(RB1):c.1797T>A (p.Asn599Lys)
NM_000321.3(RB1):c.179T>G (p.Leu60Ter)
NM_000321.3(RB1):c.1803del (p.Ala602fs)
NM_000321.3(RB1):c.1811A>G (p.Asp604Gly) rs1949339014
NM_000321.3(RB1):c.1814+3A>C rs376886420
NM_000321.3(RB1):c.1815-10A>G
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter)
NM_000321.3(RB1):c.1836_1837del (p.Pro613fs)
NM_000321.3(RB1):c.1843A>T (p.Lys615Ter)
NM_000321.3(RB1):c.1848del (p.Gly617fs)
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)
NM_000321.3(RB1):c.1849_1850insA (p.Gly617fs)
NM_000321.3(RB1):c.1853_1857del (p.Ser618fs)
NM_000321.3(RB1):c.1875_1876del (p.Ala626fs)
NM_000321.3(RB1):c.1875del (p.Ala626fs)
NM_000321.3(RB1):c.1887_1888del (p.Glu629fs) rs2138331297
NM_000321.3(RB1):c.1889del (p.Thr630fs)
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) rs1217977493
NM_000321.3(RB1):c.1891del (p.Gln631fs)
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter) rs587778833
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter) rs1949359779
NM_000321.3(RB1):c.1925T>A (p.Leu642Ter) rs587778865
NM_000321.3(RB1):c.1927A>G (p.Lys643Glu) rs587778866
NM_000321.3(RB1):c.1937del (p.Ser646fs)
NM_000321.3(RB1):c.1939_1940del (p.Leu647fs)
NM_000321.3(RB1):c.1954A>T (p.Lys652Ter)
NM_000321.3(RB1):c.1958_1960del (p.Lys653_Val654delinsMet)
NM_000321.3(RB1):c.1959A>T (p.Lys653Asn)
NM_000321.3(RB1):c.1959dup (p.Val654fs) rs1566234123
NM_000321.3(RB1):c.1960+1G>C rs1949360306
NM_000321.3(RB1):c.1960+1G>T rs1949360306
NM_000321.3(RB1):c.1960+1del
NM_000321.3(RB1):c.1960+2T>C rs587776780
NM_000321.3(RB1):c.1960+5G>A rs587778871
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.3(RB1):c.1960G>T (p.Val654Leu)
NM_000321.3(RB1):c.1961-2A>G
NM_000321.3(RB1):c.1961-2A>T rs587778867
NM_000321.3(RB1):c.1961-2del
NM_000321.3(RB1):c.1961_1963del (p.Val654_Tyr655delinsAsp)
NM_000321.3(RB1):c.1963dup (p.Tyr655fs) rs2138335800
NM_000321.3(RB1):c.1968dup (p.Leu657fs)
NM_000321.3(RB1):c.1970T>C (p.Leu657Pro)
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro)
NM_000321.3(RB1):c.1985T>C (p.Leu662Pro)
NM_000321.3(RB1):c.1987_1990del (p.Asn663fs)
NM_000321.3(RB1):c.1994T>C (p.Leu665Pro)
NM_000321.3(RB1):c.1995T>G (p.Leu665=)
NM_000321.3(RB1):c.1995_1996del (p.Leu665_Cys666insTer)
NM_000321.3(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.3(RB1):c.2022del (p.Glu675fs)
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter) rs1566235448
NM_000321.3(RB1):c.2031del (p.Glu677fs)
NM_000321.3(RB1):c.2039dup (p.Trp681fs)
NM_000321.3(RB1):c.2043G>A (p.Trp681Ter)
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.3(RB1):c.2062_2063delinsGG (p.Leu688Gly)
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter) rs1566235470
NM_000321.3(RB1):c.2071G>T (p.Glu691Ter)
NM_000321.3(RB1):c.2072_2075del (p.Glu691fs)
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094del (p.Arg698fs)
NM_000321.3(RB1):c.20_21insC (p.Thr9fs)
NM_000321.3(RB1):c.2101G>A (p.Asp701Asn) rs587778859
NM_000321.3(RB1):c.2104C>A (p.Gln702Lys)
NM_000321.3(RB1):c.2107-18_2110del
NM_000321.3(RB1):c.2107-1G>C rs587778860
NM_000321.3(RB1):c.2107-2A>G rs1593538130
NM_000321.3(RB1):c.2113del (p.Met705fs)
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr)
NM_000321.3(RB1):c.2119del (p.Ser707fs)
NM_000321.3(RB1):c.2122_2123dup (p.Met708fs)
NM_000321.3(RB1):c.2126_2133delinsGAACACATG (p.Tyr709_Ile711delinsTer)
NM_000321.3(RB1):c.2126_2137delinsGAACACATGTG (p.Tyr709_Lys713delinsTer)
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.3(RB1):c.2137A>T (p.Lys713Ter)
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.3(RB1):c.2175_2176insT (p.Thr726fs)
NM_000321.3(RB1):c.2178dup (p.Ala727fs)
NM_000321.3(RB1):c.217del (p.Arg73fs) rs587778840
NM_000321.3(RB1):c.2184C>A (p.Tyr728Ter)
NM_000321.3(RB1):c.2197C>T (p.His733Tyr) rs587778835
NM_000321.3(RB1):c.2199dup (p.Ala734fs)
NM_000321.3(RB1):c.219_220del (p.Arg73fs) rs587778862
NM_000321.3(RB1):c.219_220dup (p.Ala74fs)
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter) rs1593538220
NM_000321.3(RB1):c.2209G>T (p.Glu737Ter) rs587778868
NM_000321.3(RB1):c.2211+1G>A rs1949420231
NM_000321.3(RB1):c.2211+2T>C rs2138342748
NM_000321.3(RB1):c.2211+5G>A rs1593538236
NM_000321.3(RB1):c.2212-13T>A rs2138344431
NM_000321.3(RB1):c.2212-1_2214del
NM_000321.3(RB1):c.2213del (p.Thr738fs)
NM_000321.3(RB1):c.221_222insAG (p.Trp75fs)
NM_000321.3(RB1):c.2224_2225del (p.Val742fs)
NM_000321.3(RB1):c.2228_2231dup (p.Lys745fs) rs587778836
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter) rs958914211
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs) rs2138344622
NM_000321.3(RB1):c.2238del (p.Glu747fs) rs1949430414
NM_000321.3(RB1):c.2239G>T (p.Glu747Ter)
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter) rs587778861
NM_000321.3(RB1):c.224G>A (p.Trp75Ter)
NM_000321.3(RB1):c.2253del (p.Ile752fs)
NM_000321.3(RB1):c.2260G>A (p.Val754Ile)
NM_000321.3(RB1):c.2273C>A (p.Ser758Ter)
NM_000321.3(RB1):c.227_228dup (p.Thr77Ter) rs587778824
NM_000321.3(RB1):c.2282dup (p.Met761fs)
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter) rs1593539225
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) rs2138344925
NM_000321.3(RB1):c.2325+1G>A rs1131690882
NM_000321.3(RB1):c.2325+1G>C rs1131690882
NM_000321.3(RB1):c.2325+1G>T rs1131690882
NM_000321.3(RB1):c.2325+1del
NM_000321.3(RB1):c.2325+3_2325+6delinsG
NM_000321.3(RB1):c.2325+5G>A rs886042249
NM_000321.3(RB1):c.2325+5G>T
NM_000321.3(RB1):c.2326-1G>A
NM_000321.3(RB1):c.2326-1del
NM_000321.3(RB1):c.232del (p.Trp78fs)
NM_000321.3(RB1):c.2339C>A (p.Ser780Ter)
NM_000321.3(RB1):c.2339C>G (p.Ser780Ter) rs1593539366
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.3(RB1):c.235G>T (p.Glu79Ter)
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu) rs1593539386
NM_000321.3(RB1):c.2370C>G (p.Tyr790Ter) rs794727372
NM_000321.3(RB1):c.2371_2392dup (p.Arg798delinsGlnValSerTer)
NM_000321.3(RB1):c.2373_2374insA (p.Phe792fs)
NM_000321.3(RB1):c.2391del (p.Leu797fs)
NM_000321.3(RB1):c.2410A>G (p.Ile804Val)
NM_000321.3(RB1):c.2426del (p.Leu809fs)
NM_000321.3(RB1):c.2426dup (p.Lys810fs)
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs) rs2138345982
NM_000321.3(RB1):c.2431_2452dup (p.Gly818delinsGluSerIleTer)
NM_000321.3(RB1):c.2453del (p.Gly818fs) rs587778837
NM_000321.3(RB1):c.2457del (p.Pro820fs)
NM_000321.3(RB1):c.2457dup (p.Pro820fs)
NM_000321.3(RB1):c.245C>G (p.Ser82Ter)
NM_000321.3(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.3(RB1):c.2468del (p.Thr823fs)
NM_000321.3(RB1):c.2482_2483insTTGG (p.Arg828fs)
NM_000321.3(RB1):c.2489+1G>C rs764754259
NM_000321.3(RB1):c.2489+1G>T
NM_000321.3(RB1):c.2489+5G>A rs1949434078
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000321.3(RB1):c.2490-103_2490-35del
NM_000321.3(RB1):c.2490-1G>A rs587778838
NM_000321.3(RB1):c.2490-28T>C
NM_000321.3(RB1):c.2490-2A>G
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.3(RB1):c.2507del (p.Gly836fs)
NM_000321.3(RB1):c.2520+1G>A rs587778850
NM_000321.3(RB1):c.2520+1G>C
NM_000321.3(RB1):c.2520+1del rs587776779
NM_000321.3(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.3(RB1):c.2520+4A>G rs1949484627
NM_000321.3(RB1):c.2520+5G>A rs1131690881
NM_000321.3(RB1):c.2520+5G>C rs1131690881
NM_000321.3(RB1):c.2520+5G>T rs1131690881
NM_000321.3(RB1):c.2525_2526dup (p.Glu843fs)
NM_000321.3(RB1):c.2525dup (p.Ser842_Glu843insTer) rs587778851
NM_000321.3(RB1):c.2531del (p.Lys844fs)
NM_000321.3(RB1):c.2538del (p.Lys847_Ile848insTer)
NM_000321.3(RB1):c.2543del (p.Ile848fs)
NM_000321.3(RB1):c.2560_2563del (p.Asn854fs)
NM_000321.3(RB1):c.264+1G>A rs1131690907
NM_000321.3(RB1):c.264+2T>C
NM_000321.3(RB1):c.264G>A (p.Leu88=)
NM_000321.3(RB1):c.265G>T (p.Gly89Ter)
NM_000321.3(RB1):c.2663+2T>C rs587778839
NM_000321.3(RB1):c.2714-17C>G
NM_000321.3(RB1):c.281del (p.Lys94fs)
NM_000321.3(RB1):c.287dup (p.Glu97fs)
NM_000321.3(RB1):c.288_289delinsA (p.Glu97fs)
NM_000321.3(RB1):c.289del (p.Glu97fs)
NM_000321.3(RB1):c.305_306del (p.Cys102fs) rs587778825
NM_000321.3(RB1):c.308del (p.Ile103fs)
NM_000321.3(RB1):c.312del (p.Phe104fs)
NM_000321.3(RB1):c.31G>T (p.Ala11Ser) rs587778852
NM_000321.3(RB1):c.32_63del (p.Ala11fs) rs1593411974
NM_000321.3(RB1):c.338_341dup (p.Phe115fs)
NM_000321.3(RB1):c.341C>A (p.Ser114Ter)
NM_000321.3(RB1):c.34_71del (p.Thr12fs) rs2138027150
NM_000321.3(RB1):c.34_74del (p.Thr12fs)
NM_000321.3(RB1):c.358_362dup (p.Gln121fs)
NM_000321.3(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) rs1952457111
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) rs1131690843
NM_000321.3(RB1):c.396dup (p.Asn133Ter)
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.3(RB1):c.438_441del (p.Asn146fs) rs587778841
NM_000321.3(RB1):c.43_65dup (p.Pro23fs) rs587776790
NM_000321.3(RB1):c.442_443del (p.Met148fs)
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer) rs2138087597
NM_000321.3(RB1):c.45_76del (p.Ala17fs) rs1593412002
NM_000321.3(RB1):c.462_464dup (p.Tyr155Ter)
NM_000321.3(RB1):c.463dup (p.Tyr155fs) rs587778854
NM_000321.3(RB1):c.465T>G (p.Tyr155Ter)
NM_000321.3(RB1):c.469del (p.Val157fs)
NM_000321.3(RB1):c.46_65del (p.Ala16fs)
NM_000321.3(RB1):c.485del (p.Phe162fs)
NM_000321.3(RB1):c.49_80del (p.Ala17fs)
NM_000321.3(RB1):c.501-1G>T
NM_000321.3(RB1):c.508G>T (p.Glu170Ter) rs587778826
NM_000321.3(RB1):c.521T>A (p.Leu174Ter)
NM_000321.3(RB1):c.526C>T (p.Gln176Ter)
NM_000321.3(RB1):c.52_80del (p.Ala18fs)
NM_000321.3(RB1):c.540-1G>A
NM_000321.3(RB1):c.540-1G>C
NM_000321.3(RB1):c.55G>T (p.Glu19Ter)
NM_000321.3(RB1):c.575_576del (p.Lys192fs)
NM_000321.3(RB1):c.585G>A (p.Trp195Ter)
NM_000321.3(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.3(RB1):c.602del (p.Ala201fs)
NM_000321.3(RB1):c.606del (p.Glu204fs) rs1593438023
NM_000321.3(RB1):c.607+1G>A rs587776789
NM_000321.3(RB1):c.607+1G>C rs587776789
NM_000321.3(RB1):c.607+1G>T rs587776789
NM_000321.3(RB1):c.607+1del
NM_000321.3(RB1):c.607+2T>G
NM_000321.3(RB1):c.608-1G>A
NM_000321.3(RB1):c.608-2del rs1952624973
NM_000321.3(RB1):c.610del
NM_000321.3(RB1):c.626A>G (p.Glu209Gly)
NM_000321.3(RB1):c.678dup (p.Ile227fs)
NM_000321.3(RB1):c.688_689del (p.Ser230fs)
NM_000321.3(RB1):c.69GCC[2] (p.Pro28_Pro29del)
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.717T>G (p.Tyr239Ter)
NM_000321.3(RB1):c.718+5G>T rs1131690848
NM_000321.3(RB1):c.719-39G>T
NM_000321.3(RB1):c.719-3C>G
NM_000321.3(RB1):c.719-9C>G
NM_000321.3(RB1):c.721dup (p.Thr241fs)
NM_000321.3(RB1):c.736_737del (p.Pro245_Ile246insTer)
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.3(RB1):c.769C>T (p.Gln257Ter)
NM_000321.3(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.3(RB1):c.788_789dup (p.Ala264Ter)
NM_000321.3(RB1):c.789del (p.Ile263fs)
NM_000321.3(RB1):c.795del (p.Lys265fs) rs587778827
NM_000321.3(RB1):c.814A>T (p.Arg272Ter)
NM_000321.3(RB1):c.828del (p.Leu277fs)
NM_000321.3(RB1):c.837del (p.Glu280fs)
NM_000321.3(RB1):c.844del (p.Glu282fs)
NM_000321.3(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) rs1131690864
NM_000321.3(RB1):c.861+1G>A
NM_000321.3(RB1):c.861+3A>C
NM_000321.3(RB1):c.861+3A>T
NM_000321.3(RB1):c.861G>A (p.Glu287=) rs1555284956
NM_000321.3(RB1):c.862-2A>G
NM_000321.3(RB1):c.876T>A (p.Tyr292Ter)
NM_000321.3(RB1):c.884del (p.Asn295fs)
NM_000321.3(RB1):c.884dup (p.Asn295fs) rs587778828
NM_000321.3(RB1):c.888del (p.Phe296fs)
NM_000321.3(RB1):c.88G>T (p.Glu30Ter)
NM_000321.3(RB1):c.891del (p.Pro298fs)
NM_000321.3(RB1):c.893del (p.Pro298fs)
NM_000321.3(RB1):c.902del (p.Asn301fs)
NM_000321.3(RB1):c.937G>T (p.Glu313Ter) rs587778843
NM_000321.3(RB1):c.939G>A (p.Glu313=) rs2138116702
NM_000321.3(RB1):c.940-1G>A rs1131690860
NM_000321.3(RB1):c.940-21C>A rs559042622
NM_000321.3(RB1):c.940-2A>C
NM_000321.3(RB1):c.951_954del (p.Ser318fs) rs1566194323
NM_000321.3(RB1):c.957dup (p.Arg320fs)
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.3(RB1):c.961_963delinsAA (p.Tyr321fs)
NM_000321.3(RB1):c.963C>A (p.Tyr321Ter)
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter) rs377235036
NM_000321.3(RB1):c.967G>T (p.Glu323Ter) rs1060503077
NM_000321.3(RB1):c.986_989del (p.Lys329fs)
NM_000321.3(RB1):c.9_42dup (p.Ala15fs) rs1555279195

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