List of variants in gene RAI1 reported as benign for Smith-Magenis syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.840del (p.Gln280fs)	rs34083643	0.35741
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=)	rs4925112	0.11504
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=)	rs35686634	0.09361
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=)	rs117995220	0.00559
NM_030665.4(RAI1):c.840_843del (p.Gln280fs)	rs775735568	0.00094
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)	rs142415050	0.00063
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg)	rs370633684	0.00026
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)	rs149716029
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del)	rs371983878

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