ClinVar Miner

List of variants studied for Hereditary mucoepithelial dysplasia

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys) rs2033690347
NM_004176.5(SREBF1):c.1580G>A (p.Arg527His) rs1428621525
NM_004176.5(SREBF1):c.91+1G>C

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