ClinVar Miner

List of variants reported as uncertain significance for Isolated microphthalmia 3 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_013435.3(RAX):c.*1362G>C rs549738316 0.01221
NM_013435.3(RAX):c.*1361G>A rs868825984 0.00463
NM_013435.3(RAX):c.-94G>A rs570401263 0.00314
NM_013435.3(RAX):c.*46C>G rs199835983 0.00309
NM_013435.3(RAX):c.197G>C (p.Arg66Thr) rs536765190 0.00260
NM_013435.3(RAX):c.*797G>C rs142239322 0.00168
NM_013435.3(RAX):c.290-4C>A rs200338566 0.00163
NM_013435.3(RAX):c.*120C>G rs564406163 0.00131
NM_013435.3(RAX):c.544-11C>G rs200098438 0.00081
NM_013435.3(RAX):c.24A>G (p.Pro8=) rs771409497 0.00061
NM_013435.3(RAX):c.863C>A (p.Pro288Gln) rs538022273 0.00048
NM_013435.3(RAX):c.*1921C>T rs543553728 0.00047
NM_013435.3(RAX):c.*1365G>T rs886054022 0.00042
NM_013435.3(RAX):c.-36G>A rs2271732 0.00042
NM_013435.3(RAX):c.*857G>T rs1051461355 0.00039
NM_013435.3(RAX):c.710G>A (p.Gly237Asp) rs757339865 0.00031
NM_013435.3(RAX):c.*88C>T rs1016918167 0.00021
NM_013435.3(RAX):c.783G>C (p.Pro261=) rs766154387 0.00020
NM_013435.3(RAX):c.*1038C>T rs537995548 0.00016
NM_013435.3(RAX):c.*1737C>A rs574039587 0.00012
NM_013435.3(RAX):c.612G>A (p.Leu204=) rs753579122 0.00012
NM_013435.3(RAX):c.*1525G>A rs777078818 0.00009
NM_013435.3(RAX):c.*850C>T rs201904765 0.00007
NM_013435.3(RAX):c.215C>G (p.Ala72Gly) rs752697208 0.00007
NM_013435.3(RAX):c.*29C>T rs373801363 0.00004
NM_013435.3(RAX):c.105C>T (p.Ile35=) rs758437978 0.00004
NM_013435.3(RAX):c.279C>A (p.Pro93=) rs780219769 0.00004
NM_013435.3(RAX):c.*1389C>G rs886054019 0.00003
NM_013435.3(RAX):c.*1817A>G rs769710821 0.00003
NM_013435.3(RAX):c.-104C>T rs886054029 0.00002
NM_013435.3(RAX):c.618C>T (p.Asp206=) rs766173636 0.00002
NM_013435.3(RAX):c.750G>A (p.Pro250=) rs1487028248 0.00002
NM_013435.3(RAX):c.*353G>A rs1228654108 0.00001
NM_013435.3(RAX):c.*705G>A rs1358722833 0.00001
NM_013435.3(RAX):c.153C>G (p.Phe51Leu) rs1214569321 0.00001
NM_013435.3(RAX):c.166G>A (p.Gly56Ser) rs886054027 0.00001
NM_013435.3(RAX):c.835C>G (p.Pro279Ala) rs886054025 0.00001
NM_013435.3(RAX):c.998A>G (p.Lys333Arg) rs896866240 0.00001
NM_013435.3(RAX):c.*1089C>G rs1222023037
NM_013435.3(RAX):c.*1127C>A rs2070294534
NM_013435.3(RAX):c.*1194G>T rs558754310
NM_013435.3(RAX):c.*1300A>G rs535434206
NM_013435.3(RAX):c.*1350T>G rs1603388551
NM_013435.3(RAX):c.*1363G>T rs1033066465
NM_013435.3(RAX):c.*1418G>A rs552418179
NM_013435.3(RAX):c.*1437G>T rs114467275
NM_013435.3(RAX):c.*1547G>T rs886054018
NM_013435.3(RAX):c.*1651G>A rs2070287055
NM_013435.3(RAX):c.*1674A>G rs2070286718
NM_013435.3(RAX):c.*1756C>A rs886054017
NM_013435.3(RAX):c.*1771G>A rs2070285648
NM_013435.3(RAX):c.*1795C>T rs960059255
NM_013435.3(RAX):c.*328A>G rs886054024
NM_013435.3(RAX):c.*711G>A rs919529457
NM_013435.3(RAX):c.118G>C (p.Gly40Arg) rs886054028
NM_013435.3(RAX):c.173G>C (p.Arg58Pro) rs886054026
NM_013435.3(RAX):c.328C>G (p.Arg110Gly) rs202032096
NM_013435.3(RAX):c.521A>G (p.Asn174Ser) rs2070344729
NM_013435.3(RAX):c.921C>G (p.Pro307=) rs775263241
NM_013435.3(RAX):c.922G>A (p.Gly308Ser) rs765024850

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