ClinVar Miner

List of variants in gene NHLRC1 reported as benign for Lafora disease

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_198586.3(NHLRC1):c.*621T>A rs10949481 0.08640
NM_198586.3(NHLRC1):c.*336G>A rs10949482 0.06634
NM_198586.3(NHLRC1):c.*626C>T rs10949480 0.06100
NM_198586.3(NHLRC1):c.*276G>C rs11966748 0.01453
NM_198586.3(NHLRC1):c.*237T>C rs73379118 0.01438
NM_198586.3(NHLRC1):c.*85T>A rs73379121 0.01436
NM_198586.3(NHLRC1):c.*344A>T rs147528518 0.00614
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00176
NM_198586.3(NHLRC1):c.*886G>A rs146342540 0.00155
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=) rs529490452 0.00001
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789

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