ClinVar Miner

List of variants in gene NHLRC1 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: 17
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HGVS dbSNP
NM_198586.3(NHLRC1):c.*237T>C rs73379118
NM_198586.3(NHLRC1):c.*276G>C rs11966748
NM_198586.3(NHLRC1):c.*336G>A rs10949482
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*621T>A rs10949481
NM_198586.3(NHLRC1):c.*626C>T rs10949480
NM_198586.3(NHLRC1):c.*85T>A rs73379121
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.3(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723

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