ClinVar Miner

List of variants in gene combination HBA-LCR, NPRL3 reported as likely 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: 12
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HGVS dbSNP
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=) rs572375358
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=) rs369473961
NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=) rs1374917107
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=) rs571533880
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=) rs767665276
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=) rs1218964632
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=) rs368272925
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=) rs751260495

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