ClinVar Miner

List of variants in gene RAI1 reported as uncertain significance by GeneDx

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.2965A>G (p.Lys989Glu) rs993240093 0.00004
NM_030665.4(RAI1):c.4630C>T (p.Arg1544Trp) rs374516556 0.00002
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr) rs752659701 0.00002
NM_030665.4(RAI1):c.5275G>A (p.Gly1759Ser) rs777108697 0.00002
NM_030665.4(RAI1):c.62C>T (p.Ser21Leu) rs1226187697 0.00002
NM_030665.4(RAI1):c.1758G>C (p.Lys586Asn) rs756134541 0.00001
NM_030665.4(RAI1):c.2120C>G (p.Ser707Cys) rs767038093 0.00001
NM_030665.4(RAI1):c.2885C>T (p.Pro962Leu) rs1198795075 0.00001
NM_030665.4(RAI1):c.469T>C (p.Tyr157His) rs1289033749 0.00001
NM_030665.4(RAI1):c.628C>A (p.Pro210Thr) rs1480442331 0.00001
GRCh37/hg19 17p11.2(chr17:17496888-17599850)x3
NM_030665.4(RAI1):c.-4A>T
NM_030665.4(RAI1):c.1063T>C (p.Ser355Pro)
NM_030665.4(RAI1):c.1085C>G (p.Pro362Arg)
NM_030665.4(RAI1):c.1098C>G (p.Asn366Lys)
NM_030665.4(RAI1):c.1107C>G (p.Asn369Lys)
NM_030665.4(RAI1):c.1219G>T (p.Val407Leu) rs2032139965
NM_030665.4(RAI1):c.1288C>T (p.Leu430Phe) rs2143001887
NM_030665.4(RAI1):c.136_144del (p.Leu46_Lys48del) rs1402735523
NM_030665.4(RAI1):c.1413G>C (p.Arg471Ser) rs2143001922
NM_030665.4(RAI1):c.1424A>G (p.Gln475Arg)
NM_030665.4(RAI1):c.1481G>C (p.Gly494Ala)
NM_030665.4(RAI1):c.1574T>G (p.Leu525Arg) rs1167192442
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu) rs2032158187
NM_030665.4(RAI1):c.1628A>C (p.Asn543Thr) rs1222809674
NM_030665.4(RAI1):c.1646A>C (p.Lys549Thr)
NM_030665.4(RAI1):c.1697C>T (p.Thr566Ile) rs1057524861
NM_030665.4(RAI1):c.1762G>T (p.Val588Leu) rs546791674
NM_030665.4(RAI1):c.1766C>G (p.Ala589Gly) rs1226126106
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
NM_030665.4(RAI1):c.1973G>C (p.Trp658Ser)
NM_030665.4(RAI1):c.1973G>T (p.Trp658Leu) rs2032173536
NM_030665.4(RAI1):c.2105C>T (p.Thr702Ile) rs2143002131
NM_030665.4(RAI1):c.214G>T (p.Ala72Ser)
NM_030665.4(RAI1):c.2210C>T (p.Ser737Leu) rs755230504
NM_030665.4(RAI1):c.2380C>G (p.Gln794Glu)
NM_030665.4(RAI1):c.2391C>A (p.Asp797Glu)
NM_030665.4(RAI1):c.241G>A (p.Gly81Ser)
NM_030665.4(RAI1):c.2420C>T (p.Pro807Leu)
NM_030665.4(RAI1):c.2537C>G (p.Ser846Cys)
NM_030665.4(RAI1):c.2575A>C (p.Thr859Pro)
NM_030665.4(RAI1):c.2657G>T (p.Gly886Val) rs1555565546
NM_030665.4(RAI1):c.2746T>A (p.Ser916Thr) rs2032211451
NM_030665.4(RAI1):c.2747C>T (p.Ser916Phe)
NM_030665.4(RAI1):c.2894C>T (p.Ser965Phe) rs2143002450
NM_030665.4(RAI1):c.3124_3125delinsTC (p.Gly1042Ser) rs2143002527
NM_030665.4(RAI1):c.3133G>A (p.Gly1045Ser) rs2143002534
NM_030665.4(RAI1):c.3224C>G (p.Thr1075Ser)
NM_030665.4(RAI1):c.3269C>T (p.Ala1090Val) rs2143002599
NM_030665.4(RAI1):c.3292G>T (p.Val1098Leu)
NM_030665.4(RAI1):c.3425G>A (p.Arg1142His) rs2032249630
NM_030665.4(RAI1):c.3529C>T (p.Leu1177Phe) rs2143002687
NM_030665.4(RAI1):c.3623C>T (p.Pro1208Leu)
NM_030665.4(RAI1):c.3682T>G (p.Phe1228Val) rs778151827
NM_030665.4(RAI1):c.36C>T (p.Gly12=)
NM_030665.4(RAI1):c.3737G>A (p.Ser1246Asn)
NM_030665.4(RAI1):c.3919C>T (p.Arg1307Trp)
NM_030665.4(RAI1):c.3965G>A (p.Arg1322Gln) rs1204207609
NM_030665.4(RAI1):c.4013C>T (p.Ser1338Leu) rs2143002851
NM_030665.4(RAI1):c.4310C>T (p.Pro1437Leu) rs1453585230
NM_030665.4(RAI1):c.4334AGA[1] (p.Lys1446del)
NM_030665.4(RAI1):c.4445G>A (p.Ser1482Asn)
NM_030665.4(RAI1):c.4819T>A (p.Phe1607Ile)
NM_030665.4(RAI1):c.4859C>G (p.Ala1620Gly)
NM_030665.4(RAI1):c.4891_4908dup (p.Ala1631_Ser1636dup) rs2143003266
NM_030665.4(RAI1):c.5172G>T (p.Arg1724=) rs766240657
NM_030665.4(RAI1):c.5356T>C (p.Cys1786Arg)
NM_030665.4(RAI1):c.5407C>T (p.Arg1803Cys) rs778987232
NM_030665.4(RAI1):c.5408G>T (p.Arg1803Leu)
NM_030665.4(RAI1):c.5414A>T (p.His1805Leu) rs2143003519
NM_030665.4(RAI1):c.545C>T (p.Pro182Leu) rs1260037619
NM_030665.4(RAI1):c.559A>G (p.Lys187Glu) rs2143001624
NM_030665.4(RAI1):c.5602G>A (p.Gly1868Arg) rs2143005182
NM_030665.4(RAI1):c.648C>G (p.Phe216Leu)
NM_030665.4(RAI1):c.740A>C (p.His247Pro) rs1555564964
NM_030665.4(RAI1):c.764C>G (p.Ser255Cys)
NM_030665.4(RAI1):c.767G>A (p.Ser256Asn) rs377028008
NM_030665.4(RAI1):c.974A>G (p.Asp325Gly) rs771793232

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