ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 67
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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.4652C>T (p.Ser1551Leu) rs202158738 0.00032
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.109G>A (p.Gly37Arg) rs201393598 0.00024
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.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_030665.4(RAI1):c.1580G>A (p.Arg527His) rs377314203 0.00011
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.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.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.1979G>A (p.Arg660Gln) rs377537260 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_030665.4(RAI1):c.2965A>G (p.Lys989Glu) rs993240093 0.00004
NM_030665.4(RAI1):c.3479G>A (p.Arg1160Gln) rs764373875 0.00004
NM_030665.4(RAI1):c.3761A>G (p.Asn1254Ser) rs141204901 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.4166A>G (p.Gln1389Arg) rs757354656 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_030665.4(RAI1):c.2414C>T (p.Ser805Leu) rs368058215 0.00002
NM_030665.4(RAI1):c.3097C>G (p.Pro1033Ala) rs749315193 0.00002
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr) rs752659701 0.00002
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 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.3913G>A (p.Ala1305Thr) rs794727521 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.530C>T (p.Pro177Leu) rs753632651 0.00001
NM_030665.4(RAI1):c.5432C>G (p.Ala1811Gly) rs1484029703 0.00001
NM_030665.4(RAI1):c.1603G>A (p.Ala535Thr) rs754428934
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.2221G>A (p.Ala741Thr)
NM_030665.4(RAI1):c.2391C>A (p.Asp797Glu)
NM_030665.4(RAI1):c.2659A>G (p.Met887Val) rs794727523
NM_030665.4(RAI1):c.3254G>A (p.Gly1085Glu) rs756454905
NM_030665.4(RAI1):c.3346C>T (p.Pro1116Ser) rs950397097
NM_030665.4(RAI1):c.3407C>T (p.Thr1136Met)
NM_030665.4(RAI1):c.3751G>A (p.Ala1251Thr)
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.76C>T (p.Arg26Cys) rs376964045
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.98C>T (p.Pro33Leu) rs753461570

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