ClinVar Miner

List of variants in gene IMPG2 reported as benign for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.*380C>A rs488679 0.82759
NM_016247.4(IMPG2):c.*568C>A rs486814 0.80464
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) rs348867 0.80304
NM_016247.4(IMPG2):c.*3780T>A rs511575 0.80280
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.*4121T>G rs813449 0.64343
NM_016247.4(IMPG2):c.666+10G>A rs533852 0.39987
NM_016247.4(IMPG2):c.*1589A>G rs6798685 0.12923
NM_016247.4(IMPG2):c.*881T>C rs75852013 0.12848
NM_016247.4(IMPG2):c.*1737T>C rs6796058 0.12729
NM_016247.4(IMPG2):c.*2278C>G rs72930551 0.03006
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_016247.4(IMPG2):c.828+17_828+18insC rs199824990 0.01356
NM_016247.4(IMPG2):c.*2917G>A rs117574754 0.00125
NM_016247.4(IMPG2):c.1169G>A (p.Arg390His) rs139255481 0.00072
NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser) rs199986912 0.00001

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