ClinVar Miner

List of variants reported as likely pathogenic for Dyggve-Melchior-Clausen syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001353214.3(DYM):c.1626-2A>G	rs2514909662
NM_001353214.3(DYM):c.421+1G>T
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter)	rs2524201617

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