ClinVar Miner

List of variants in gene combination HBA-LCR, NPRL3 reported as benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704
NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=) rs1128426
NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu) rs74712570
NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849
NM_001077350.3(NPRL3):c.180C>T (p.Gly60=) rs75187722
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989
NM_001077350.3(NPRL3):c.534C>T (p.Ser178=) rs140092767
NM_001077350.3(NPRL3):c.550A>C (p.Asn184His) rs73478320
NM_001077350.3(NPRL3):c.629+9G>C rs142080016
NM_001077350.3(NPRL3):c.919C>T (p.Leu307=) rs549291288
NM_001077350.3(NPRL3):c.924+7C>G rs778499898

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