ClinVar Miner

List of variants in gene POMT2 studied for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 6
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HGVS dbSNP
NM_013382.5(POMT2):c.*2160T>C rs886050813
NM_013382.5(POMT2):c.*2369dup rs113216374
NM_013382.5(POMT2):c.*433T>C rs574303799
NM_013382.5(POMT2):c.*682_*683delAG rs572839285
NM_013382.5(POMT2):c.-199C>T rs886050829
NM_013382.5(POMT2):c.-47_-44del rs368351148

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