ClinVar Miner

Variants in gene RAI1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1468 202 0 110 136 0 2 227

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 1 1 0
uncertain significance 1 0 91 67
likely benign 1 91 0 110
benign 0 67 110 0

All variants with conflicting interpretations #

Total variants: 227
Download table as spreadsheet
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.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 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.5379C>T (p.Gly1793=) rs372539998 0.00017
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00016
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_030665.4(RAI1):c.2981G>A (p.Arg994Gln) rs201996411 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.5545A>G (p.Met1849Val) rs373921882 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_030665.4(RAI1):c.1116C>T (p.Tyr372=) rs139936921 0.00011
NM_030665.4(RAI1):c.1580G>A (p.Arg527His) rs377314203 0.00011
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 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.3883C>T (p.Pro1295Ser) rs372337877 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.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_030665.4(RAI1):c.2085T>C (p.Ala695=) rs200335835 0.00007
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.1488G>A (p.Pro496=) rs727504116 0.00006
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.397C>T (p.Pro133Ser) rs183251531 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_030665.4(RAI1):c.531G>A (p.Pro177=) rs148993070 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_030665.4(RAI1):c.5717C>T (p.Pro1906Leu) rs754508586 0.00006
NM_030665.4(RAI1):c.757G>A (p.Ala253Thr) rs758931451 0.00006
NM_030665.4(RAI1):c.2225A>G (p.Asn742Ser) rs527512369 0.00005
NM_030665.4(RAI1):c.3030C>A (p.Ala1010=) rs542714936 0.00005
NM_030665.4(RAI1):c.4726C>T (p.Arg1576Cys) rs199790171 0.00005
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.1979G>A (p.Arg660Gln) rs377537260 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr) rs780371904 0.00004
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.2965A>G (p.Lys989Glu) rs993240093 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_030665.4(RAI1):c.3479G>A (p.Arg1160Gln) rs764373875 0.00004
NM_030665.4(RAI1):c.3552C>T (p.Pro1184=) rs751510948 0.00004
NM_030665.4(RAI1):c.3761A>G (p.Asn1254Ser) rs141204901 0.00004
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu) rs376809177 0.00004
NM_030665.4(RAI1):c.3885G>T (p.Pro1295=) rs146259338 0.00004
NM_030665.4(RAI1):c.4258T>C (p.Ser1420Pro) rs1446366935 0.00004
NM_030665.4(RAI1):c.4936G>A (p.Gly1646Arg) rs143029873 0.00004
NM_030665.4(RAI1):c.5204C>T (p.Pro1735Leu) rs376429075 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.719C>T (p.Thr240Ile) rs142646842 0.00004
NM_030665.4(RAI1):c.1150G>A (p.Ala384Thr) rs377731841 0.00003
NM_030665.4(RAI1):c.1744G>A (p.Asp582Asn) rs781255993 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.2820C>G (p.Ser940Arg) rs141725170 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.386C>G (p.Pro129Arg) rs748915017 0.00003
NM_030665.4(RAI1):c.4166A>G (p.Gln1389Arg) rs757354656 0.00003
NM_030665.4(RAI1):c.4251A>G (p.Lys1417=) rs556223883 0.00003
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln) rs368003493 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_030665.4(RAI1):c.5183C>T (p.Thr1728Ile) rs201220981 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.1048G>A (p.Val350Met) rs746652874 0.00002
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00002
NM_030665.4(RAI1):c.2414C>T (p.Ser805Leu) rs368058215 0.00002
NM_030665.4(RAI1):c.2545G>A (p.Asp849Asn) rs866732668 0.00002
NM_030665.4(RAI1):c.2700C>T (p.Thr900=) rs370400740 0.00002
NM_030665.4(RAI1):c.3097C>G (p.Pro1033Ala) rs749315193 0.00002
NM_030665.4(RAI1):c.4397G>A (p.Arg1466Gln) rs369962661 0.00002
NM_030665.4(RAI1):c.4625G>A (p.Arg1542Gln) rs184604492 0.00002
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr) rs752659701 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.1598A>G (p.Asn533Ser) rs542908784 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.2304C>T (p.Gly768=) rs753155088 0.00001
NM_030665.4(RAI1):c.2329G>C (p.Asp777His) rs959911033 0.00001
NM_030665.4(RAI1):c.2692A>G (p.Ile898Val) rs200306885 0.00001
NM_030665.4(RAI1):c.2709G>C (p.Glu903Asp) rs752676204 0.00001
NM_030665.4(RAI1):c.2885C>T (p.Pro962Leu) rs1198795075 0.00001
NM_030665.4(RAI1):c.2912C>T (p.Ser971Phe) rs1429295079 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.4412C>T (p.Pro1471Leu) rs530301043 0.00001
NM_030665.4(RAI1):c.469T>C (p.Tyr157His) rs1289033749 0.00001
NM_030665.4(RAI1):c.4816G>A (p.Ala1606Thr) rs575260371 0.00001
NM_030665.4(RAI1):c.5141A>G (p.Lys1714Arg) rs369948107 0.00001
NM_030665.4(RAI1):c.5170C>T (p.Arg1724Trp) rs373198856 0.00001
NM_030665.4(RAI1):c.530C>T (p.Pro177Leu) rs753632651 0.00001
NM_030665.4(RAI1):c.5432C>G (p.Ala1811Gly) rs1484029703 0.00001
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00001
NM_030665.4(RAI1):c.5659+4C>T rs771668748 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.1054C>T (p.Arg352Cys) rs907728820
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.1603G>A (p.Ala535Thr) rs754428934
NM_030665.4(RAI1):c.1606C>T (p.Arg536Cys) rs149164900
NM_030665.4(RAI1):c.1616C>T (p.Pro539Leu) rs2032158187
NM_030665.4(RAI1):c.1665C>G (p.Thr555=) rs769515020
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.1775G>C (p.Arg592Pro) rs141808855
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser) rs1030615093
NM_030665.4(RAI1):c.194C>T (p.Thr65Met)
NM_030665.4(RAI1):c.199T>C (p.Ser67Pro) rs2143001498
NM_030665.4(RAI1):c.2190G>A (p.Pro730=) rs141039036
NM_030665.4(RAI1):c.2221G>A (p.Ala741Thr)
NM_030665.4(RAI1):c.2289C>T (p.Gly763=)
NM_030665.4(RAI1):c.232T>C (p.Tyr78His)
NM_030665.4(RAI1):c.2391C>A (p.Asp797Glu)
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.2659A>G (p.Met887Val) rs794727523
NM_030665.4(RAI1):c.2931C>A (p.Asn977Lys) rs754379238
NM_030665.4(RAI1):c.3254G>A (p.Gly1085Glu) rs756454905
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.3346C>T (p.Pro1116Ser) rs950397097
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln)
NM_030665.4(RAI1):c.3724C>T (p.Arg1242Trp)
NM_030665.4(RAI1):c.3725G>A (p.Arg1242Gln)
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.3731GCA[5] (p.Ser1249del)
NM_030665.4(RAI1):c.3731GCA[7] (p.Ser1249dup) rs760919336
NM_030665.4(RAI1):c.3751G>A (p.Ala1251Thr)
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.3820T>C (p.Ser1274Pro)
NM_030665.4(RAI1):c.3920G>T (p.Arg1307Leu) rs369260099
NM_030665.4(RAI1):c.4119C>A (p.Gly1373=)
NM_030665.4(RAI1):c.4310C>T (p.Pro1437Leu) rs1453585230
NM_030665.4(RAI1):c.4313G>C (p.Gly1438Ala) rs781252626
NM_030665.4(RAI1):c.4384C>G (p.Pro1462Ala)
NM_030665.4(RAI1):c.4637A>G (p.Lys1546Arg)
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg) rs977107435
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu) rs931068297
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.5710-5dup rs1271191069
NM_030665.4(RAI1):c.76C>T (p.Arg26Cys) rs376964045
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[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.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030665.4(RAI1):c.836_837insACA (p.Gln291dup) rs571229335
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730
NM_030665.4(RAI1):c.980C>G (p.Ala327Gly) rs1555565043
NM_030665.4(RAI1):c.982G>A (p.Val328Ile) rs543870015
NM_030665.4(RAI1):c.986G>A (p.Arg329Gln)
NM_030665.4(RAI1):c.98C>T (p.Pro33Leu) rs753461570

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