ClinVar Miner

List of variants in gene combination LOC126807094, PRDM8 reported as likely benign 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.276C>G (p.Val92=) rs373706543 0.00030
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=) rs374385368 0.00021
NM_001099403.2(PRDM8):c.372G>A (p.Glu124=) rs372621624 0.00013
NM_001099403.2(PRDM8):c.555T>G (p.Ala185=) rs377684484 0.00013
NM_001099403.2(PRDM8):c.452-15T>C rs751186666 0.00007
NM_001099403.2(PRDM8):c.220-17T>A rs371051740 0.00004
NM_001099403.2(PRDM8):c.271T>C (p.Leu91=) rs370312299 0.00004
NM_001099403.2(PRDM8):c.409T>C (p.Leu137=) rs376010390 0.00004
NM_001099403.2(PRDM8):c.282G>A (p.Ser94=) rs777124231 0.00003
NM_001099403.2(PRDM8):c.222A>G (p.Val74=) rs375203530 0.00001
NM_001099403.2(PRDM8):c.231A>G (p.Ser77=) rs1045192626 0.00001
NM_001099403.2(PRDM8):c.369C>T (p.Asp123=) rs754992126 0.00001
NM_001099403.2(PRDM8):c.220-20T>C rs765904617
NM_001099403.2(PRDM8):c.363C>G (p.Ala121=) rs1263648679
NM_001099403.2(PRDM8):c.415T>C (p.Leu139=) rs1738440035
NM_001099403.2(PRDM8):c.451+13G>A
NM_001099403.2(PRDM8):c.451+20G>A rs2109877266
NM_001099403.2(PRDM8):c.452-19G>C
NM_001099403.2(PRDM8):c.452-19G>T rs777390514
NM_001099403.2(PRDM8):c.504C>T (p.Phe168=)

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