ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1894C>T (p.Leu632=) rs61736754 0.01318
NM_030665.4(RAI1):c.1044C>T (p.Arg348=) rs142316059 0.00634
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356 0.00492
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_030665.4(RAI1):c.4317G>T (p.Gly1439=) rs572421943 0.00047
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030665.4(RAI1):c.1882G>A (p.Glu628Lys) rs371291565 0.00006
NM_030665.4(RAI1):c.4911G>A (p.Ser1637=) rs756222196 0.00001
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3760A>G (p.Asn1254Asp) rs2032268470
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.707A>G (p.Tyr236Cys) rs780157776

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