ClinVar Miner

List of variants studied for Smith-Magenis syndrome by Athena Diagnostics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361

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