ClinVar Miner

List of variants in gene IMPG2 reported by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp) rs770293441 0.00006
NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp) rs867271343 0.00001
NM_016247.4(IMPG2):c.501+5G>A rs1404077542 0.00001
NM_016247.4(IMPG2):c.1045del (p.Tyr349fs) rs1706625164
NM_016247.4(IMPG2):c.188_191del (p.Lys63fs) rs2058802102
NM_016247.4(IMPG2):c.533+4_533+7del rs1707008452
NM_016247.4(IMPG2):c.634del (p.Ser212fs) rs1706833794
NM_016247.4(IMPG2):c.666+5G>A rs775105637

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