ClinVar Miner

List of variants in gene RAI1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00062
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) rs372539998 0.00017
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_030665.4(RAI1):c.1740G>A (p.Pro580=) rs138768616 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_030665.4(RAI1):c.2004C>T (p.Pro668=) rs398124414 0.00014
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 0.00011
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_030665.4(RAI1):c.1488G>A (p.Pro496=) rs727504116 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_030665.4(RAI1):c.1444A>G (p.Ser482Gly) rs200842054 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_030665.4(RAI1):c.195G>A (p.Thr65=) rs377342940 0.00003
NM_030665.4(RAI1):c.484G>A (p.Ala162Thr) rs781632642 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_030665.4(RAI1):c.660C>T (p.Ser220=) rs756623054 0.00003
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.1937A>C (p.His646Pro) rs757197196 0.00001
NM_030665.4(RAI1):c.2056C>T (p.Leu686=) rs371806740 0.00001
NM_030665.4(RAI1):c.2721G>C (p.Val907=) rs374458918 0.00001
NM_030665.4(RAI1):c.3174T>C (p.Arg1058=) rs765448317 0.00001
NM_030665.4(RAI1):c.3181A>T (p.Thr1061Ser) rs727504117 0.00001
NM_030665.4(RAI1):c.3720C>T (p.Val1240=) rs778274557 0.00001
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr) rs794727521 0.00001
NM_030665.4(RAI1):c.4250A>G (p.Lys1417Arg) rs772449638 0.00001
NM_030665.4(RAI1):c.4616G>A (p.Arg1539His) rs776440167 0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) rs794727522 0.00001
NM_030665.4(RAI1):c.4981C>T (p.Arg1661Trp) rs201517835 0.00001
NM_030665.4(RAI1):c.1770T>G (p.Gly590=) rs794727526
NM_030665.4(RAI1):c.2659A>G (p.Met887Val) rs794727523
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.3335C>T (p.Pro1112Leu) rs794727525
NM_030665.4(RAI1):c.3726_3731dup (p.1242_1243RS[3]) rs1169402682
NM_030665.4(RAI1):c.3928T>C (p.Phe1310Leu) rs794727524
NM_030665.4(RAI1):c.5424C>T (p.Ser1808=) rs1555566286
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730

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