ClinVar Miner

List of variants in gene POMGNT1 studied for Muscle eye brain disease

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Total variants: 9
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NM_001290130.1(POMGNT1):c.-197_-196del rs1553164129
NM_001290130.1(POMGNT1):c.-79del rs386834028
NM_017739.3(POMGNT1):c.121-2A>G rs1057516871
NM_017739.3(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.3(POMGNT1):c.236-1G>T rs1057516477
NM_017739.3(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_017739.3(POMGNT1):c.354+1G>A rs1057517449
NM_017739.3(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478

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