ClinVar Miner

List of variants studied for Muscle eye brain disease by Mendelics

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Total variants: 4
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NM_001243766.1(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_001243766.1(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1867= (p.Val623=) rs6659553
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573

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