ClinVar Miner

List of variants in gene IMPG2 reported as benign for vitelliform macular dystrophy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) rs348867 0.80304
NM_016247.4(IMPG2):c.85+25T>G rs573908 0.71056
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) rs571391 0.64801
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356

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