ClinVar Miner

List of variants reported as likely benign for Isolated microphthalmia 3

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_013435.3(RAX):c.*908T>C rs45501496 0.31214
NM_013435.3(RAX):c.*917C>T rs58797899 0.31197
NM_013435.3(RAX):c.*1878T>C rs9947104 0.24863
NM_013435.3(RAX):c.*291C>T rs3744892 0.22961
NM_013435.3(RAX):c.*236C>T rs28774981 0.21619
NM_013435.3(RAX):c.*1319C>T rs78384549 0.15606
NM_013435.3(RAX):c.*1272G>A rs75969240 0.14660
NM_013435.3(RAX):c.*376C>T rs3744893 0.04140
NM_013435.3(RAX):c.*1516G>C rs147621199 0.00621
NM_013435.3(RAX):c.197G>C (p.Arg66Thr) rs536765190 0.00260
NM_013435.3(RAX):c.290-4C>A rs200338566 0.00163
NM_013435.3(RAX):c.729C>A (p.Ser243=) rs777929939 0.00139
NM_013435.3(RAX):c.24A>G (p.Pro8=) rs771409497 0.00061
NM_013435.3(RAX):c.745C>T (p.Leu249=) rs752919963 0.00027
NM_013435.3(RAX):c.516G>A (p.Lys172=) rs144080426 0.00023
NM_013435.3(RAX):c.783G>C (p.Pro261=) rs766154387 0.00020
NM_013435.3(RAX):c.612G>A (p.Leu204=) rs753579122 0.00012
NM_013435.3(RAX):c.544-7C>T rs769041045 0.00006
NM_013435.3(RAX):c.*1437G>A rs114467275
NM_013435.3(RAX):c.198G>A (p.Arg66=)
NM_013435.3(RAX):c.290-7G>T
NM_013435.3(RAX):c.657G>T (p.Ala219=) rs2070314960
NM_013435.3(RAX):c.78C>A (p.Gly26=) rs2070355189

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