ClinVar Miner

List of variants studied for myopia

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_173596.3(SLC39A5):c.-14T>C rs1274497 0.99669
NM_001169109.2(SCO2):c.-14+522A>G rs131805 0.82861
NM_018192.4(P3H2):c.634-17C>T rs1719599 0.74024
NM_018192.4(P3H2):c.634-18C>T rs1719598 0.74023
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_018192.4(P3H2):c.507A>G (p.Glu169=) rs9821880 0.29539
NM_018192.4(P3H2):c.696C>T (p.His232=) rs1719600 0.18737
NM_173596.3(SLC39A5):c.1121G>C (p.Ser374Thr) rs74812296 0.01466
NM_018192.4(P3H2):c.972A>G (p.Lys324=) rs34558237 0.01372
NM_001017974.2(P4HA2):c.226G>T (p.Ala76Ser) rs61739875 0.00608
NM_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_018192.4(P3H2):c.555G>T (p.Gln185His) rs117688924 0.00041
NM_005138.3(SCO2):c.713C>T (p.Thr238Met) rs149439760 0.00039
NM_005138.3(SCO2):c.378G>A (p.Met126Ile) rs150880212 0.00025
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala) rs147185850 0.00022
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp) rs200857997 0.00014
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys) rs201174948 0.00009
NM_013291.3(CPSF1):c.2823_2824del (p.Val943fs) rs782640869 0.00009
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_173596.3(SLC39A5):c.141C>G (p.Tyr47Ter) rs199624584 0.00006
NM_201269.3(ZNF644):c.1759A>G (p.Ile587Val) rs146936371 0.00006
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter) rs74315510 0.00004
NM_001017974.2(P4HA2):c.419A>G (p.Gln140Arg) rs764211125 0.00003
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys) rs748770403 0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) rs377600857 0.00003
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289 0.00002
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) rs781096189 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_033133.5(CNP):c.1015G>A (p.Val339Ile) rs782532165 0.00002
NM_000264.5(PTCH1):c.1274C>T (p.Thr425Met) rs768956985 0.00001
NM_001017974.2(P4HA2):c.871G>A (p.Glu291Lys) rs758872875 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) rs887755283 0.00001
NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr) rs755447989 0.00001
NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter) rs766829965 0.00001
NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) rs752134549 0.00001
NM_033133.5(CNP):c.-67C>T rs1422332023 0.00001
NM_033133.5(CNP):c.59A>C (p.Lys20Thr) rs199923805 0.00001
NM_033133.5(CNP):c.59A>G (p.Lys20Arg) rs199923805 0.00001
NM_152564.5(VPS13B):c.4745+1G>A rs1469729130 0.00001
NM_201269.3(ZNF644):c.*592G>A rs587776903 0.00001
NM_201269.3(ZNF644):c.3683A>G (p.His1228Arg) rs759595796 0.00001
46;X;t(X;9)(p22.2;p13)dn
46;XY;t(2;14)(p23;q13)dn
46;XY;t(5;15)(q11.2;q24)
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
NC_012920.1:m.3275C>T rs1057516057
NM_000138.5(FBN1):c.1481G>T (p.Cys494Phe) rs1057518881
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) rs2043485390
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile) rs1057518812
NM_000138.5(FBN1):c.840_843del (p.Asn280fs) rs1057518909
NM_001017974.2(P4HA2):c.782C>A (p.Thr261Lys)
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001365677.2(P4HA2):c.1352_1353del (p.Val451fs) rs1135402746
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001429.4(EP300):c.2053+4A>T rs1057518889
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) rs121912882
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) rs1553200431
NM_002025.4(AFF2):c.3209A>G (p.His1070Arg) rs1057518785
NM_002160.4(TNC):c.890A>G (p.Asn297Ser) rs1554717312
NM_002337.4(LRPAP1):c.199del (p.Gln67fs) rs786205216
NM_002337.4(LRPAP1):c.605del (p.Asn202fs) rs786205127
NM_002337.4(LRPAP1):c.705_708del (p.Asp236fs) rs763010898
NM_002337.4(LRPAP1):c.863_864del (p.Ile288fs) rs398122836
NM_002474.3(MYH11):c.4360G>C (p.Asp1454His) rs1057518938
NM_004312.3(ARR3):c.214C>T (p.Arg72Ter) rs2147641058
NM_004312.3(ARR3):c.239T>C (p.Leu80Pro) rs1555941116
NM_004312.3(ARR3):c.298C>T (p.Arg100Ter) rs1555941129
NM_004312.3(ARR3):c.553C>T (p.Arg185Cys)
NM_004312.3(ARR3):c.893C>A (p.Ala298Asp) rs765658563
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln) rs753614511
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_005138.3(SCO2):c.652dup (p.Gln218fs) rs2148670938
NM_013291.3(CPSF1):c.1120-5C>T
NM_013291.3(CPSF1):c.1258_1259del (p.Lys420fs)
NM_013291.3(CPSF1):c.1752+4A>T
NM_013291.3(CPSF1):c.1858C>T (p.Gln620Ter) rs1586620121
NM_013291.3(CPSF1):c.1999A>G (p.Met667Val)
NM_013291.3(CPSF1):c.3823G>T (p.Asp1275Tyr) rs1554862601
NM_013291.3(CPSF1):c.4146-2A>G rs782555528
NM_013291.3(CPSF1):c.539+1G>A
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter) rs1057518891
NM_018192.4(P3H2):c.101TGGAGC[3] (p.34LE[3]) rs753516272
NM_018192.4(P3H2):c.1189-17del rs11311050
NM_018192.4(P3H2):c.1523G>T (p.Gly508Val) rs724159988
NM_018192.4(P3H2):c.1782G>A (p.Trp594Ter) rs2108908334
NM_018192.4(P3H2):c.297del (p.Gly100fs) rs875989838
NM_018192.4(P3H2):c.297dup (p.Gly100fs)
NM_018192.4(P3H2):c.556C>T (p.Gln186Ter) rs724160006
NM_018192.4(P3H2):c.679G>T (p.Glu227Ter) rs1408355931
NM_032603.5(LOXL3):c.39dup (p.Leu14fs) rs35904632
NM_032603.5(LOXL3):c.594del (p.Gln199fs) rs2104441352
NM_032603.5(LOXL3):c.824dup (p.Ala277fs) rs746133895
NM_033133.5(CNP):c.-77C>T rs1387950081
NM_033133.5(CNP):c.1034G>A (p.Gly345Asp) rs2051026773
NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs) rs1364947213
NM_173596.3(SLC39A5):c.1495C>T (p.Arg499Cys)
NM_173596.3(SLC39A5):c.227dup (p.Gln77fs) rs1356255450
NM_173596.3(SLC39A5):c.911T>C (p.Met304Thr) rs587777625
NM_173596.3(SLC39A5):c.964C>T (p.Arg322Ter) rs148112570
NM_201269.3(ZNF644):c.1100C>T (p.Pro367Leu)
NM_201269.3(ZNF644):c.2014A>G (p.Ser672Gly) rs387907109
NM_201269.3(ZNF644):c.2168A>G (p.His723Arg) rs1651677177
NM_201269.3(ZNF644):c.3494del (p.Lys1165fs) rs1651481139

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