ClinVar Miner

List of variants in gene LOC129992745, PRDM8 studied for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=) rs764387669 0.00116
NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=) rs373726901 0.00013
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His) rs750341856 0.00011
NM_001099403.2(PRDM8):c.1494A>G (p.Lys498=) rs1738660549 0.00006
NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=) rs951686621 0.00005
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825 0.00005
NM_001099403.2(PRDM8):c.1503C>T (p.Phe501=) rs966208524 0.00004
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser) rs1310667127 0.00001
NM_001099403.2(PRDM8):c.1476C>T (p.Ala492=) rs1279321008 0.00001
NM_001099403.2(PRDM8):c.1521T>C (p.Ser507=) rs757071182 0.00001
NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg) rs1319969823 0.00001
NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg)
NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val) rs1379672825
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu) rs1560479209
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr) rs1560479219
NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=) rs1279321008
NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly)
NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp) rs1738658290
NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=)
NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg)
NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)
NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu)
NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr)
NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=)
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter) rs1738669010
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp) rs778713373

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.