ClinVar Miner

List of variants studied for Smith-Magenis syndrome by 3billion

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.116G>T (p.Ser39Ile) rs2143001466
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.545C>T (p.Pro182Leu) rs1260037619

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