ClinVar Miner

List of variants in gene POMT1 studied for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 5
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NM_001077365.2(POMT1):c.*274T>A rs886063540
NM_001077365.2(POMT1):c.-22C>T rs748211086
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400

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