ClinVar Miner

List of variants in gene IMPG2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe) rs376443291 0.00015
NM_016247.4(IMPG2):c.829-1G>T rs776740276 0.00001
NC_000003.11:g.(?_100958882)_(100962584_?)del
NC_000003.11:g.(?_100960886)_(100962721_?)del
NM_016247.4(IMPG2):c.1153+1G>A rs2107234582
NM_016247.4(IMPG2):c.1153+1G>C rs2107234582
NM_016247.4(IMPG2):c.1239+2T>A rs1706568274
NM_016247.4(IMPG2):c.1240-1G>A
NM_016247.4(IMPG2):c.1240-1G>C rs2107222436
NM_016247.4(IMPG2):c.3233+1G>A rs2107207834
NM_016247.4(IMPG2):c.334+2T>C
NM_016247.4(IMPG2):c.3633+1G>T rs886057685
NM_016247.4(IMPG2):c.501+1G>A rs1707165087
NM_016247.4(IMPG2):c.502-2A>G rs2107126517
NM_016247.4(IMPG2):c.533+1G>A
NM_016247.4(IMPG2):c.583+1G>C rs1360618530
NM_016247.4(IMPG2):c.666+2T>G
NM_016247.4(IMPG2):c.828+1G>A
NM_016247.4(IMPG2):c.829-1_840del
NM_016247.4(IMPG2):c.888-1G>T rs1706733354
NM_016247.4(IMPG2):c.888-2A>G
NM_016247.4(IMPG2):c.908+1G>A rs1253611243

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