ClinVar Miner

List of variants in gene DPM2, LOC130002675 studied for congenital muscular dystrophy with intellectual disability and severe epilepsy

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-211T>G rs187834148 0.00038
NM_003863.3(DPM2):c.-141G>A rs886063485 0.00016
NM_003863.4(DPM2):c.-5G>A rs371551833 0.00008
NM_003863.4(DPM2):c.3+6A>G rs776375979 0.00002
NM_003863.3(DPM2):c.-208G>A rs1290789503 0.00001
NM_003863.3(DPM2):c.-88C>T rs886063484 0.00001
NM_003863.4(DPM2):c.3+5G>A rs1333396682 0.00001
NM_003863.3(DPM2):c.-267T>C rs1831540551
NM_003863.3(DPM2):c.-84G>A rs1831537719
NM_003863.4(DPM2):c.3+3G>A rs1403906360
NM_003863.4(DPM2):c.3+3G>T rs1403906360

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