ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 1 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_031229.4(RBCK1):c.510A>T (p.Pro170=)

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