ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 110
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_030665.4(RAI1):c.264G>A (p.Gln88=) rs61999281 0.02170
NM_030665.4(RAI1):c.840_849del (p.Gln280fs) rs760854027 0.01119
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.1326G>A (p.Val442=) rs148308622 0.00451
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_030665.4(RAI1):c.1656C>T (p.Ser552=) rs148309343 0.00153
NM_030665.4(RAI1):c.3655C>T (p.Leu1219Phe) rs151290050 0.00136
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_030665.4(RAI1):c.223G>T (p.Ala75Ser) rs566875015 0.00118
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168 0.00102
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_030665.4(RAI1):c.301G>A (p.Gly101Ser) rs145801481 0.00078
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274 0.00073
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.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00062
NM_030665.4(RAI1):c.303C>T (p.Gly101=) rs143836684 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_030665.4(RAI1):c.3318C>A (p.Ala1106=) rs34206150 0.00057
NM_030665.4(RAI1):c.5253C>T (p.Ala1751=) rs34383407 0.00057
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) rs139684843 0.00053
NM_030665.4(RAI1):c.1866C>T (p.Ala622=) rs143944475 0.00044
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_030665.4(RAI1):c.2622A>G (p.Leu874=) rs140455907 0.00041
NM_030665.4(RAI1):c.516C>A (p.His172Gln) rs147481626 0.00035
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738 0.00032
NM_030665.4(RAI1):c.5079G>A (p.Pro1693=) rs748845443 0.00032
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_030665.4(RAI1):c.2190G>C (p.Pro730=) rs141039036 0.00026
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_030665.4(RAI1):c.5199G>A (p.Ser1733=) rs146112263 0.00024
NM_030665.4(RAI1):c.1134C>T (p.Ser378=) rs141719449 0.00023
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_030665.4(RAI1):c.5545A>G (p.Met1849Val) rs373921882 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.1116C>T (p.Tyr372=) rs139936921 0.00011
NM_030665.4(RAI1):c.1266C>T (p.Leu422=) rs777325097 0.00009
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu) rs200061071 0.00009
NM_030665.4(RAI1):c.4794C>T (p.Phe1598=) rs769601380 0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln) rs368587743 0.00009
NM_030665.4(RAI1):c.3183G>A (p.Thr1061=) rs774189404 0.00008
NM_030665.4(RAI1):c.4279G>A (p.Glu1427Lys) rs766363196 0.00008
NM_030665.4(RAI1):c.2085T>C (p.Ala695=) rs200335835 0.00007
NM_030665.4(RAI1):c.4735T>C (p.Tyr1579His) rs762221377 0.00007
NM_030665.4(RAI1):c.284C>T (p.Pro95Leu) rs370882080 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.531G>A (p.Pro177=) rs148993070 0.00006
NM_030665.4(RAI1):c.586G>A (p.Asp196Asn) rs775499267 0.00005
NM_030665.4(RAI1):c.925G>A (p.Ala309Thr) rs542056789 0.00005
NM_030665.4(RAI1):c.101G>A (p.Ser34Asn) rs767047134 0.00004
NM_030665.4(RAI1):c.187G>A (p.Ala63Thr) rs758424396 0.00004
NM_030665.4(RAI1):c.1960G>A (p.Ala654Thr) rs749791172 0.00004
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr) rs780371904 0.00004
NM_030665.4(RAI1):c.3885G>T (p.Pro1295=) rs146259338 0.00004
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg) rs143029873 0.00004
NM_030665.4(RAI1):c.5243C>T (p.Ala1748Val) rs199929703 0.00004
NM_030665.4(RAI1):c.5398G>A (p.Asp1800Asn) rs777865239 0.00004
NM_030665.4(RAI1):c.1150G>A (p.Ala384Thr) rs377731841 0.00003
NM_030665.4(RAI1):c.3219C>T (p.Gly1073=) rs766857973 0.00003
NM_030665.4(RAI1):c.3693G>A (p.Pro1231=) rs753643062 0.00003
NM_030665.4(RAI1):c.4251A>G (p.Lys1417=) rs556223883 0.00003
NM_030665.4(RAI1):c.1048G>A (p.Val350Met) rs746652874 0.00002
NM_030665.4(RAI1):c.4397G>A (p.Arg1466Gln) rs369962661 0.00002
NM_030665.4(RAI1):c.1598A>G (p.Asn533Ser) rs542908784 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.2304C>T (p.Gly768=) rs753155088 0.00001
NM_030665.4(RAI1):c.2912C>T (p.Ser971Phe) rs1429295079 0.00001
NM_030665.4(RAI1):c.4412C>T (p.Pro1471Leu) rs530301043 0.00001
NM_030665.4(RAI1):c.530C>T (p.Pro177Leu) rs753632651 0.00001
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00001
NM_030665.4(RAI1):c.748C>G (p.Pro250Ala) rs988555614 0.00001
NM_030665.4(RAI1):c.751C>G (p.Leu251Val) rs765999818 0.00001
NM_030665.4(RAI1):c.131G>A (p.Arg44Gln)
NM_030665.4(RAI1):c.139G>A (p.Ala47Thr) rs398124413
NM_030665.4(RAI1):c.1450G>A (p.Glu484Lys)
NM_030665.4(RAI1):c.1775G>C (p.Arg592Pro) rs141808855
NM_030665.4(RAI1):c.2190G>A (p.Pro730=) rs141039036
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3731GCA[4] (p.Ser1248_Ser1249del) rs760919336
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.3920G>T (p.Arg1307Leu) rs369260099
NM_030665.4(RAI1):c.4119C>A (p.Gly1373=)
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu) rs931068297
NM_030665.4(RAI1):c.5710-5dup rs1271191069
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[15] (p.Gln290_Gln291dup) rs371983878
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[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[8] (p.Gln287_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030665.4(RAI1):c.836_837insACA (p.Gln291dup) rs571229335
NM_030665.4(RAI1):c.982G>A (p.Val328Ile) rs543870015

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