ClinVar Miner

List of variants reported as likely pathogenic for distinct bent bone dysplasia by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_005560.6(LAMA5):c.4213G>A (p.Ala1405Thr)	rs779995373	0.00009
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys)	rs377244239	0.00004

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