ClinVar Miner

List of variants in gene LOC129992744, PRDM8 studied for Early-onset Lafora body disease

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001099403.2(PRDM8):c.987G>T (p.Leu329=) rs6831357 0.06687
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=) rs560049733 0.00036
NM_001099403.2(PRDM8):c.973G>A (p.Gly325Ser) rs773668859 0.00013
NM_001099403.2(PRDM8):c.935G>A (p.Gly312Glu) rs201579839 0.00001
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp) rs769365726 0.00001
NM_001099403.2(PRDM8):c.951G>C (p.Pro317=) rs1326656501 0.00001
NM_001099403.2(PRDM8):c.978C>A (p.Gly326=) rs1484326591 0.00001
NM_001099403.2(PRDM8):c.983G>C (p.Gly328Ala) rs1440891569 0.00001
NM_001099403.2(PRDM8):c.992G>A (p.Gly331Glu) rs1177151496 0.00001
NM_001099403.2(PRDM8):c.1002C>G (p.Gly334=)
NM_001099403.2(PRDM8):c.929G>T (p.Gly310Val)
NM_001099403.2(PRDM8):c.945A>G (p.Lys315=)
NM_001099403.2(PRDM8):c.951G>A (p.Pro317=)
NM_001099403.2(PRDM8):c.956A>C (p.Glu319Ala) rs1234825510
NM_001099403.2(PRDM8):c.971G>A (p.Gly324Asp)
NM_001099403.2(PRDM8):c.972C>T (p.Gly324=) rs528863020
NM_001099403.2(PRDM8):c.988G>C (p.Val330Leu)
NM_001099403.2(PRDM8):c.995G>A (p.Gly332Asp)
NM_001099403.2(PRDM8):c.996C>G (p.Gly332=)
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu) rs1323000516

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