ClinVar Miner

Variants in gene RAI1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 73
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168 0.00102
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
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.3589G>C (p.Gly1197Arg) rs200719553 0.00024
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.2004C>T (p.Pro668=) rs398124414 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 0.00011
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu) rs200061071 0.00009
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_030665.4(RAI1):c.3158C>T (p.Pro1053Leu) rs748386061 0.00007
NM_030665.4(RAI1):c.1488G>A (p.Pro496=) rs727504116 0.00006
NM_030665.4(RAI1):c.2951C>T (p.Ala984Val) rs371644042 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.3030C>A (p.Ala1010=) rs542714936 0.00005
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.2947G>A (p.Glu983Lys) rs772512478 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu) rs376809177 0.00004
NM_030665.4(RAI1):c.5204C>T (p.Pro1735Leu) rs376429075 0.00004
NM_030665.4(RAI1):c.719C>T (p.Thr240Ile) rs142646842 0.00004
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) rs200001615 0.00003
NM_030665.4(RAI1):c.195G>A (p.Thr65=) rs377342940 0.00003
NM_030665.4(RAI1):c.2544C>T (p.Ala848=) rs777023372 0.00003
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln) rs368003493 0.00003
NM_030665.4(RAI1):c.660C>T (p.Ser220=) rs756623054 0.00003
NM_030665.4(RAI1):c.73T>A (p.Ser25Thr) rs891764320 0.00003
NM_030665.4(RAI1):c.2700C>T (p.Thr900=) rs370400740 0.00002
NM_030665.4(RAI1):c.1110T>G (p.Phe370Leu) rs754037858 0.00001
NM_030665.4(RAI1):c.1202C>T (p.Thr401Met) rs200825036 0.00001
NM_030665.4(RAI1):c.12T>C (p.Phe4=) rs755209169 0.00001
NM_030665.4(RAI1):c.1487C>T (p.Pro496Leu) rs200903510 0.00001
NM_030665.4(RAI1):c.1758G>C (p.Lys586Asn) rs756134541 0.00001
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.3720C>T (p.Val1240=) rs778274557 0.00001
NM_030665.4(RAI1):c.469T>C (p.Tyr157His) rs1289033749 0.00001
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp) rs373198856 0.00001
NM_030665.4(RAI1):c.5659+4C>T rs771668748 0.00001
NM_030665.4(RAI1):c.1054C>T (p.Arg352Cys) rs907728820
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu) rs2032158187
NM_030665.4(RAI1):c.1740G>T (p.Pro580=) rs138768616
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys) rs1240460489
NM_030665.4(RAI1):c.1775G>A (p.Arg592Gln) rs141808855
NM_030665.4(RAI1):c.2289C>T (p.Gly763=)
NM_030665.4(RAI1):c.2404_2406del (p.Lys802del) rs779691871
NM_030665.4(RAI1):c.2506C>G (p.Arg836Gly) rs370508336
NM_030665.4(RAI1):c.2931C>A (p.Asn977Lys) rs754379238
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.3724C>T (p.Arg1242Trp)
NM_030665.4(RAI1):c.3725G>A (p.Arg1242Gln)
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup) rs760919336
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg) rs977107435
NM_030665.4(RAI1):c.5172G>T (p.Arg1724=) rs766240657
NM_030665.4(RAI1):c.517G>A (p.Val173Ile) rs573327073
NM_030665.4(RAI1):c.5517C>T (p.Ala1839=) rs377747563
NM_030665.4(RAI1):c.834GCA[16] (p.Gln289_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[20] (p.Gln285_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[5] (p.Gln284_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[7] (p.Gln286_Gln291del) rs371983878
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730
NM_030665.4(RAI1):c.980C>G (p.Ala327Gly) rs1555565043

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