ClinVar Miner

List of variants studied for disorder of orbital region by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735 0.00627
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001379500.1(COL18A1):c.2379+7C>T rs202100967 0.00379
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) rs186714117 0.00087
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_012193.4(FZD4):c.766A>G (p.Ile256Val) rs104894223 0.00054
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_001349884.2(DRAM2):c.737T>C (p.Leu246Pro) rs148031211 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_207352.4(CYP4V2):c.414-1G>A rs767779208 0.00015
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) rs28936701 0.00004
NM_000350.3(ABCA4):c.4773+3A>G rs759672616 0.00004
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00004
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe) rs985211023 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) rs121909211 0.00003
NM_001379500.1(COL18A1):c.3317G>A (p.Arg1106Gln) rs752092795 0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) rs372913827 0.00002
NM_012418.4(FSCN2):c.833A>G (p.Asn278Ser) rs988890666 0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) rs531851447 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_201548.5(CERKL):c.1012C>T (p.Arg338Ter) rs748394238 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_001098.3(ACO2):c.1744C>G (p.Leu582Val) rs2066571929 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001242957.3(MAK):c.1143+6T>C rs1394158081 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr) rs1651478594 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr) rs762108313 0.00001
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882 0.00001
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724 0.00001
NM_024408.4(NOTCH2):c.7198C>T (p.Arg2400Ter) rs1325403451 0.00001
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) rs768945306 0.00001
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp) rs761833391 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_201548.5(CERKL):c.1074-1G>C rs927261937 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904 0.00001
NM_207352.4(CYP4V2):c.801+1G>A rs761362530 0.00001
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1
GRCh37/hg19 3q29(chr3:193343827-194599635)x1
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu) rs2125316074
NM_000104.4(CYP1B1):c.908A>C (p.Lys303Thr) rs1682488839
NM_000153.4(GALC):c.1185dup (p.Arg396fs) rs1885268471
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr) rs1715176840
NM_000214.3(JAG1):c.1721-2A>T
NM_000214.3(JAG1):c.2579G>A (p.Gly860Glu) rs762121866
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs) rs1761915143
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter) rs1554269046
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro) rs2152005198
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000330.4(RS1):c.439T>C (p.Trp147Arg) rs2147191229
NM_000330.4(RS1):c.53-1G>A rs1928241490
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs) rs1661098509
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu) rs61749425
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.4353-8T>G
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000496.3(CRYBB2):c.565_572delinsTGCATCCA (p.Arg189_Arg191delinsCysIleHis) rs2146095462
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) rs121907959
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000539.3(RHO):c.353_361+3del rs2084759300
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.67C>T (p.Pro23Ser) rs104893797
NM_000541.5(SAG):c.733G>A (p.Val245Met)
NM_000554.6(CRX):c.573T>G (p.Tyr191Ter)
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del) rs1554414710
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001031710.3(KLHL7):c.433A>T (p.Asn145Tyr) rs1182983579
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001034853.2(RPGR):c.2321_2330del (p.Glu774fs)
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.469_469+5del rs2067875112
NM_001034853.2(RPGR):c.544_545del (p.Val182fs) rs2147276819
NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)
NM_001123385.2(BCOR):c.1696C>T (p.Arg566Cys) rs1935607481
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.5958del (p.Thr1987fs)
NM_001142800.2(EYS):c.9258T>A (p.Tyr3086Ter) rs1190932109
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001174147.2(LMX1B):c.253G>A (p.Ala85Thr) rs1289892661
NM_001174147.2(LMX1B):c.797G>C (p.Trp266Ser) rs2030220818
NM_001202.6(BMP4):c.184C>G (p.Leu62Val) rs2140238102
NM_001252024.2(TRPM1):c.1623+1G>A rs2033825467
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) rs782527288
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser)
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter) rs369525244
NM_001349884.2(DRAM2):c.98_99del (p.Leu33fs) rs2101085885
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) rs1237278944
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter) rs1131692304
NM_001371596.2(MFSD8):c.754+1G>A rs868732642
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.10175T>C (p.Met3392Thr) rs2048529643
NM_001376.5(DYNC1H1):c.10237C>T (p.Arg3413Cys)
NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)
NM_001376.5(DYNC1H1):c.10975dup (p.Arg3659fs)
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile) rs2048613478
NM_001376.5(DYNC1H1):c.11690+5G>A rs1336913296
NM_001376.5(DYNC1H1):c.11702A>G (p.Tyr3901Cys) rs2048630862
NM_001376.5(DYNC1H1):c.1352G>A (p.Arg451His)
NM_001376.5(DYNC1H1):c.2476T>C (p.Ser826Pro) rs2141275205
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys) rs2047950288
NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser) rs1318726169
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys) rs2048038246
NM_001376.5(DYNC1H1):c.3563A>G (p.Glu1188Gly) rs2048045967
NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln) rs2048071941
NM_001376.5(DYNC1H1):c.4781T>G (p.Ile1594Ser) rs1233593354
NM_001376.5(DYNC1H1):c.6071G>A (p.Gly2024Asp)
NM_001376.5(DYNC1H1):c.6136C>T (p.Arg2046Trp) rs1400178483
NM_001376.5(DYNC1H1):c.6467T>G (p.Leu2156Arg) rs2048250430
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu) rs866647743
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.8945G>A (p.Arg2982His) rs2048463341
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001376.5:c.(4883+1_4884-1)_(8177+1_8178-1)del
NM_001379500.1(COL18A1):c.3310_3311delinsTG (p.Pro1104Trp) rs2146119886
NM_001379500.1(COL18A1):c.3532_3533del (p.Gly1178fs) rs2037488871
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_001844.5(COL2A1):c.2094+1G>C rs2136552560
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001844.5(COL2A1):c.3436-3C>A
NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser) rs1664593626
NM_001854.4(COL11A1):c.3816+1G>C rs398122828
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter) rs2108522196
NM_003106.4(SOX2):c.389G>A (p.Gly130Glu)
NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) rs55683010
NM_004183.4(BEST1):c.427G>C (p.Val143Leu) rs1378679988
NM_004183.4(BEST1):c.551_552delinsT (p.Pro184fs)
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004385.5(VCAN):c.4004G>T (p.Gly1335Val)
NM_004523.4(KIF11):c.301_302del (p.Ile101fs)
NM_004523.4(KIF11):c.574-2A>G
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004523.4(KIF11):c.789+1G>T rs2135904919
NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del
NM_004727.3(SLC24A1):c.642dup (p.Thr215fs)
NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro) rs1651877337
NM_005802.5(TOPORS):c.2550_2553del (p.Asp850fs) rs1563983151
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.5921del (p.Ala1974fs) rs1806199541
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) rs1890163941
NM_012064.4(MIP):c.506C>A (p.Ala169Asp) rs1868688639
NM_012338.4(TSPAN12):c.67-2A>G rs1057518477
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) rs1381192866
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) rs780465961
NM_012469.4(PRPF6):c.576G>C (p.Gln192His) rs2059135246
NM_014336.5(AIPL1):c.601T>A (p.Tyr201Asn)
NM_014444.5(TUBGCP4):c.778C>T (p.Arg260Ter) rs755174583
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala) rs139099983
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_020719.3(PRR12):c.656_657del (p.Leu219fs)
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu) rs1958822283
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_024513.4(FYCO1):c.2386C>T (p.Gln796Ter)
NM_024513.4(FYCO1):c.793dup (p.Ala265fs) rs1706240480
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_031433.4(MFRP):c.665C>G (p.Pro222Arg) rs1950545280
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp) rs727502796
NM_033100.4(CDHR1):c.2101del (p.Ala701fs) rs2132836714
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.849C>A (p.Tyr283Ter)
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_130837.3(OPA1):c.1377+6T>A
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1846G>C (p.Glu616Gln) rs1157991384
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter) rs2109138909
NM_130837.3(OPA1):c.2778+1G>A
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500
NM_133497.4(KCNV2):c.454G>T (p.Asp152Tyr) rs377667539
NM_145207.3(AFG2A):c.1169T>G (p.Val390Gly) rs1729041877
NM_145207.3(AFG2A):c.12GAA[1] (p.Lys5del) rs1432376693
NM_145207.3(AFG2A):c.1822_1824del (p.Asp608del) rs1725528788
NM_145207.3(AFG2A):c.2166_2176del (p.Ser722_Ile723insTer) rs1730786293
NM_145207.3(AFG2A):c.2527G>A (p.Ala843Thr) rs1744019425
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter) rs1187032187
NM_173596.3(SLC39A5):c.227dup (p.Gln77fs) rs1356255450
NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del) rs1747639986
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_206933.4(USH2A):c.10481C>G (p.Thr3494Arg) rs1661681799
NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter) rs1662226257

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.