ClinVar Miner

List of variants in gene RAI1 reported as pathogenic

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Gene type:
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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
GRCh37/hg19 17p11.2(chr17:17627289-17627351)x1
NM_030665.4(RAI1):c.1002del (p.Tyr335fs)
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) rs1598088235
NM_030665.4(RAI1):c.1114dup (p.Tyr372fs) rs1131691817
NM_030665.4(RAI1):c.1348C>T (p.Gln450Ter) rs1567917533
NM_030665.4(RAI1):c.1399_1412del (p.Asn467fs) rs2032146977
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
NM_030665.4(RAI1):c.1490del (p.Leu497fs) rs2032151441
NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter) rs961308480
NM_030665.4(RAI1):c.1670_1671del (p.Ser557fs) rs1555565243
NM_030665.4(RAI1):c.1690_1691del (p.Met564fs) rs886039715
NM_030665.4(RAI1):c.1692_1693del (p.Met564fs)
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
NM_030665.4(RAI1):c.182_185del (p.Gly61fs) rs1598086801
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
NM_030665.4(RAI1):c.2223_2224dup (p.Asn742fs) rs2143002175
NM_030665.4(RAI1):c.2229del (p.Phe744fs)
NM_030665.4(RAI1):c.2234_2237del (p.Ala745fs) rs1555565426
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter) rs527236033
NM_030665.4(RAI1):c.2275G>T (p.Gly759Ter) rs886041916
NM_030665.4(RAI1):c.2329del (p.Asp777fs)
NM_030665.4(RAI1):c.2332_2336del (p.Gly778fs) rs878853142
NM_030665.4(RAI1):c.2386dup (p.Glu796fs)
NM_030665.4(RAI1):c.238C>T (p.Arg80Ter)
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.2472dup (p.Leu825fs) rs1555565492
NM_030665.4(RAI1):c.2538del (p.Thr847fs) rs1598090354
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
NM_030665.4(RAI1):c.2613C>A (p.Tyr871Ter) rs1555565533
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
NM_030665.4(RAI1):c.2802dup (p.Glu935fs) rs1598090745
NM_030665.4(RAI1):c.2875dup (p.Glu959fs)
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3096del (p.Gln1035fs) rs886044681
NM_030665.4(RAI1):c.3121del (p.Ala1041fs) rs1131691617
NM_030665.4(RAI1):c.3142_3144delinsCT (p.Ala1048fs) rs1555565674
NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs) rs2032234525
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs) rs1598091391
NM_030665.4(RAI1):c.3257dup (p.Lys1087fs)
NM_030665.4(RAI1):c.3265C>T (p.Arg1089Ter) rs757309140
NM_030665.4(RAI1):c.3281C>A (p.Ser1094Ter) rs376044849
NM_030665.4(RAI1):c.3393_3396del (p.Asp1132fs) rs1064796156
NM_030665.4(RAI1):c.3398C>G (p.Ser1133Ter) rs750335388
NM_030665.4(RAI1):c.3583A>T (p.Lys1195Ter) rs727504118
NM_030665.4(RAI1):c.362_363insT (p.Trp121fs) rs2032092446
NM_030665.4(RAI1):c.367del (p.Ala123fs) rs1290537273
NM_030665.4(RAI1):c.3681del (p.Phe1228fs) rs1598092034
NM_030665.4(RAI1):c.3801del (p.Thr1268fs) rs1598092236
NM_030665.4(RAI1):c.3937dup (p.Ala1313fs)
NM_030665.4(RAI1):c.412del (p.Val138fs) rs398124419
NM_030665.4(RAI1):c.4271del (p.Phe1424fs) rs2143002950
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
NM_030665.4(RAI1):c.4432C>T (p.Arg1478Ter) rs753540389
NM_030665.4(RAI1):c.4432del (p.Arg1478fs) rs2032300575
NM_030665.4(RAI1):c.4455_4456del (p.Ala1487fs) rs2032302357
NM_030665.4(RAI1):c.4525del (p.Gln1509fs) rs2143003068
NM_030665.4(RAI1):c.4573C>T (p.Gln1525Ter)
NM_030665.4(RAI1):c.459dup (p.Ser154fs)
NM_030665.4(RAI1):c.466C>T (p.Gln156Ter)
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs) rs1555566042
NM_030665.4(RAI1):c.4678C>T (p.Arg1560Ter) rs727504119
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter) rs750728463
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg) rs104894634
NM_030665.4(RAI1):c.4801del (p.Val1601fs)
NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)
NM_030665.4(RAI1):c.4814del (p.Asp1605fs) rs1598093659
NM_030665.4(RAI1):c.4884del (p.Ser1629fs) rs1555566124
NM_030665.4(RAI1):c.5110_5116del (p.Gly1704fs)
NM_030665.4(RAI1):c.5145_5146del (p.Lys1716fs)
NM_030665.4(RAI1):c.5176G>T (p.Glu1726Ter)
NM_030665.4(RAI1):c.5182del (p.Thr1728fs) rs1064796209
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
NM_030665.4(RAI1):c.5265dup (p.Arg1756fs)
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn) rs104894633
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs) rs2032102818
NM_030665.4(RAI1):c.640C>T (p.Gln214Ter)
NM_030665.4(RAI1):c.647del (p.Phe216fs)
NM_030665.4(RAI1):c.837_841delinsAT (p.Gln280_Gln281delinsTer) rs2143001748
NM_030665.4(RAI1):c.847C>T (p.Gln283Ter) rs2032120646
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.853C>T (p.Gln285Ter)
NM_030665.4(RAI1):c.856C>T (p.Gln286Ter)
NM_030665.4(RAI1):c.860_861del (p.Gln287fs) rs2143001767
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841

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