ClinVar Miner

List of variants reported as likely pathogenic for Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L

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Total variants: 13
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HGVS dbSNP
NC_000011.10:g.(?_22218236)_(22221220_?)del
NC_000011.10:g.(?_22218246)_(22221210_?)del
NC_000011.10:g.(?_22272764)_(22276219_?)del
NC_000011.10:g.(?_22272774)_(22276209_?)del
NM_213599.2(ANO5):c.1119+1G>T
NM_213599.2(ANO5):c.1120-1G>A rs561719071
NM_213599.2(ANO5):c.139-1del rs868484837
NM_213599.2(ANO5):c.2470del (p.Gln824fs) rs770694933
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.295-1G>A rs780109230
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213599.2(ANO5):c.762+1G>A rs372221490
NM_213599.3(ANO5):c.364-1G>A

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