ClinVar Miner

List of variants studied for Smith-Magenis syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 26
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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.840_843del (p.Gln280fs) rs775735568 0.00094
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.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn) rs750911924 0.00006
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys) rs527757515 0.00001
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) rs936181213 0.00001
NM_030665.4(RAI1):c.454C>A (p.Pro152Thr) rs755899326 0.00001
NM_030665.4(RAI1):c.4911G>A (p.Ser1637=) rs756222196 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_030665.4(RAI1):c.265C>G (p.Gln89Glu) rs2032087603
NM_030665.4(RAI1):c.3572del (p.Ser1191fs)
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup) rs760919336
NM_030665.4(RAI1):c.3925G>C (p.Ala1309Pro)
NM_030665.4(RAI1):c.4463G>T (p.Ser1488Ile)
NM_030665.4(RAI1):c.4984C>T (p.Pro1662Ser)
NM_030665.4(RAI1):c.5600T>C (p.Ile1867Thr)

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