ClinVar Miner

List of variants studied for Exostoses, multiple, type 2 by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_207122.2(EXT2):c.1074del (p.Asp357_Trp358insTer)
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.626+2T>C
NM_207122.2(EXT2):c.681T>G (p.Asp227Glu)

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