ClinVar Miner

List of variants in gene RAI1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.516C>A (p.His172Gln) rs147481626 0.00035
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061 0.00007
NM_030665.4(RAI1):c.4735T>C (p.Tyr1579His) rs762221377 0.00007
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.4346G>A (p.Arg1449Gln) rs571438309 0.00006
NM_030665.4(RAI1):c.4657T>C (p.Cys1553Arg) rs145585334 0.00006
NM_030665.4(RAI1):c.4996C>G (p.Leu1666Val) rs150900749 0.00006
NM_030665.4(RAI1):c.2225A>G (p.Asn742Ser) rs527512369 0.00005
NM_030665.4(RAI1):c.4033G>T (p.Ala1345Ser) rs374370209 0.00005
NM_030665.4(RAI1):c.101G>A (p.Ser34Asn) rs767047134 0.00004
NM_030665.4(RAI1):c.1444A>G (p.Ser482Gly) rs200842054 0.00004
NM_030665.4(RAI1):c.3142G>T (p.Ala1048Ser) rs889706395 0.00004
NM_030665.4(RAI1):c.3532C>G (p.Leu1178Val) rs147321650 0.00004
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) rs200001615 0.00003
NM_030665.4(RAI1):c.2820C>G (p.Ser940Arg) rs141725170 0.00003
NM_030665.4(RAI1):c.776C>T (p.Pro259Leu) rs758661378 0.00003
NM_030665.4(RAI1):c.1310C>G (p.Ala437Gly) rs767340319 0.00002
NM_030665.4(RAI1):c.2488G>A (p.Glu830Lys) rs754955930 0.00002
NM_030665.4(RAI1):c.4183G>C (p.Gly1395Arg) rs1458340042 0.00002
NM_030665.4(RAI1):c.4844A>G (p.Asn1615Ser) rs751888195 0.00002
NM_030665.4(RAI1):c.5234G>A (p.Cys1745Tyr) rs1428568299 0.00002
NM_030665.4(RAI1):c.1235G>A (p.Gly412Asp) rs751581773 0.00001
NM_030665.4(RAI1):c.149A>G (p.Tyr50Cys) rs1382756452 0.00001
NM_030665.4(RAI1):c.2087C>T (p.Thr696Met) rs773215639 0.00001
NM_030665.4(RAI1):c.2182T>C (p.Cys728Arg) rs770814023 0.00001
NM_030665.4(RAI1):c.2692A>G (p.Ile898Val) rs200306885 0.00001
NM_030665.4(RAI1):c.3113T>C (p.Met1038Thr) rs1567922807 0.00001
NM_030665.4(RAI1):c.3173G>A (p.Arg1058His) rs1160466733 0.00001
NM_030665.4(RAI1):c.3481C>T (p.Arg1161Trp) rs758124889 0.00001
NM_030665.4(RAI1):c.3685A>G (p.Met1229Val) rs771093192 0.00001
NM_030665.4(RAI1):c.4433G>A (p.Arg1478Gln) rs756706495 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_030665.4(RAI1):c.5235T>G (p.Cys1745Trp) rs763000754 0.00001
NM_030665.4(RAI1):c.1042C>T (p.Arg348Cys)
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys) rs907728820
NM_030665.4(RAI1):c.1164C>G (p.Asp388Glu)
NM_030665.4(RAI1):c.1213A>G (p.Ser405Gly) rs1567917115
NM_030665.4(RAI1):c.14G>A (p.Arg5Gln)
NM_030665.4(RAI1):c.1556G>A (p.Ser519Asn)
NM_030665.4(RAI1):c.1607G>A (p.Arg536His)
NM_030665.4(RAI1):c.1615C>A (p.Pro539Thr) rs1567918350
NM_030665.4(RAI1):c.1718A>C (p.Gln573Pro) rs1197288631
NM_030665.4(RAI1):c.173G>C (p.Ser58Thr)
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) rs1057519065
NM_030665.4(RAI1):c.1775G>C (p.Arg592Pro) rs141808855
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser) rs1030615093
NM_030665.4(RAI1):c.1916C>T (p.Pro639Leu)
NM_030665.4(RAI1):c.1951G>A (p.Asp651Asn)
NM_030665.4(RAI1):c.2163_2165del (p.Thr723del)
NM_030665.4(RAI1):c.2167A>G (p.Thr723Ala)
NM_030665.4(RAI1):c.2174C>G (p.Ala725Gly)
NM_030665.4(RAI1):c.2374G>A (p.Gly792Ser)
NM_030665.4(RAI1):c.2847G>C (p.Met949Ile)
NM_030665.4(RAI1):c.2849A>G (p.Lys950Arg)
NM_030665.4(RAI1):c.3001C>T (p.Arg1001Cys)
NM_030665.4(RAI1):c.3035A>G (p.Asp1012Gly)
NM_030665.4(RAI1):c.3089G>A (p.Cys1030Tyr)
NM_030665.4(RAI1):c.3211C>T (p.Pro1071Ser)
NM_030665.4(RAI1):c.3257G>T (p.Gly1086Val)
NM_030665.4(RAI1):c.332G>A (p.Arg111His) rs763052036
NM_030665.4(RAI1):c.3347C>G (p.Pro1116Arg)
NM_030665.4(RAI1):c.3425G>A (p.Arg1142His) rs2032249630
NM_030665.4(RAI1):c.3462G>T (p.Glu1154Asp)
NM_030665.4(RAI1):c.3620A>G (p.Lys1207Arg)
NM_030665.4(RAI1):c.3679G>T (p.Ala1227Ser)
NM_030665.4(RAI1):c.367G>C (p.Ala123Pro)
NM_030665.4(RAI1):c.3714C>A (p.Asn1238Lys)
NM_030665.4(RAI1):c.3730C>T (p.Arg1244Cys)
NM_030665.4(RAI1):c.380_400del (p.Pro127_Pro133del)
NM_030665.4(RAI1):c.3840G>C (p.Lys1280Asn) rs762679614
NM_030665.4(RAI1):c.3926C>A (p.Ala1309Asp)
NM_030665.4(RAI1):c.4129G>A (p.Gly1377Arg) rs767828696
NM_030665.4(RAI1):c.4313G>C (p.Gly1438Ala) rs781252626
NM_030665.4(RAI1):c.4373T>C (p.Leu1458Pro)
NM_030665.4(RAI1):c.4412C>G (p.Pro1471Arg) rs530301043
NM_030665.4(RAI1):c.4432C>G (p.Arg1478Gly)
NM_030665.4(RAI1):c.4444A>G (p.Ser1482Gly) rs2032301462
NM_030665.4(RAI1):c.4508A>G (p.Glu1503Gly)
NM_030665.4(RAI1):c.454C>T (p.Pro152Ser)
NM_030665.4(RAI1):c.4754G>C (p.Arg1585Pro)
NM_030665.4(RAI1):c.4811G>A (p.Arg1604Gln)
NM_030665.4(RAI1):c.4829T>C (p.Ile1610Thr)
NM_030665.4(RAI1):c.4898C>T (p.Ser1633Phe) rs1294054139
NM_030665.4(RAI1):c.499C>T (p.Arg167Trp)
NM_030665.4(RAI1):c.5012A>C (p.His1671Pro) rs1041313981
NM_030665.4(RAI1):c.5114C>T (p.Pro1705Leu)
NM_030665.4(RAI1):c.5225G>A (p.Gly1742Asp)
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
NM_030665.4(RAI1):c.5587G>A (p.Ala1863Thr)
NM_030665.4(RAI1):c.5615A>G (p.Lys1872Arg)
NM_030665.4(RAI1):c.5708A>G (p.Lys1903Arg)
NM_030665.4(RAI1):c.667T>A (p.Ser223Thr)
NM_030665.4(RAI1):c.682G>A (p.Gly228Ser)
NM_030665.4(RAI1):c.707A>C (p.Tyr236Ser) rs780157776
NM_030665.4(RAI1):c.827A>T (p.Tyr276Phe)

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