ClinVar Miner

List of variants in gene RAI1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
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.223G>T (p.Ala75Ser) rs566875015 0.00118
NM_030665.4(RAI1):c.1524G>A (p.Thr508=) rs141826168 0.00102
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.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) rs139684843 0.00053
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_030665.4(RAI1):c.5199G>A (p.Ser1733=) rs146112263 0.00024
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_030665.4(RAI1):c.1925C>T (p.Ser642Leu) rs200061071 0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln) rs368587743 0.00009
NM_030665.4(RAI1):c.2085T>C (p.Ala695=) rs200335835 0.00007
NM_030665.4(RAI1):c.4806G>A (p.Glu1602=) rs749101536 0.00007
NM_030665.4(RAI1):c.387A>G (p.Pro129=) rs199605856 0.00005
NM_030665.4(RAI1):c.96G>A (p.Gln32=) rs763628165 0.00005
NM_030665.4(RAI1):c.101G>A (p.Ser34Asn) rs767047134 0.00004
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.2865G>A (p.Gly955=) rs771283375 0.00004
NM_030665.4(RAI1):c.3884C>T (p.Pro1295Leu) rs376809177 0.00004
NM_030665.4(RAI1):c.4266C>T (p.Asp1422=) rs376428032 0.00004
NM_030665.4(RAI1):c.4692G>A (p.Gln1564=) rs768601591 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.3693G>A (p.Pro1231=) rs753643062 0.00003
NM_030665.4(RAI1):c.4355G>A (p.Arg1452Gln) rs368003493 0.00003
NM_030665.4(RAI1):c.159G>A (p.Pro53=) rs767708787 0.00002
NM_030665.4(RAI1):c.585C>T (p.Asn195=) rs772210966 0.00002
NM_030665.4(RAI1):c.1512G>A (p.Thr504=) rs750119897 0.00001
NM_030665.4(RAI1):c.2912C>T (p.Ser971Phe) rs1429295079 0.00001
NM_030665.4(RAI1):c.5659+4C>T rs771668748 0.00001
NM_030665.4(RAI1):c.687T>C (p.Gly229=) rs1189500471 0.00001
NM_030665.4(RAI1):c.748C>G (p.Pro250Ala) rs988555614 0.00001
NM_030665.4(RAI1):c.1047C>T (p.Ser349=)
NM_030665.4(RAI1):c.2704GAGGAGGTG[1] (p.902EEV[1]) rs749561945
NM_030665.4(RAI1):c.2763A>G (p.Ser921=)
NM_030665.4(RAI1):c.3228C>T (p.Thr1076=) rs2143002581
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.3912C>T (p.Leu1304=)
NM_030665.4(RAI1):c.4296G>A (p.Pro1432=)
NM_030665.4(RAI1):c.4533G>A (p.Pro1511=)
NM_030665.4(RAI1):c.4682G>C (p.Arg1561Pro)
NM_030665.4(RAI1):c.4770C>T (p.Ser1590=)
NM_030665.4(RAI1):c.5064C>T (p.Cys1688=) rs2143003359
NM_030665.4(RAI1):c.516C>T (p.His172=)
NM_030665.4(RAI1):c.5589C>G (p.Ala1863=)
NM_030665.4(RAI1):c.5660-975TTATT[10]
NM_030665.4(RAI1):c.5711G>A (p.Arg1904Lys)
NM_030665.4(RAI1):c.579G>A (p.Leu193=)
NM_030665.4(RAI1):c.765C>T (p.Ser255=)
NM_030665.4(RAI1):c.834GCA[10] (p.Gln289_Gln291del) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.846G>A (p.Gln282=) rs998440520
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730
NM_030665.4(RAI1):c.852G>A (p.Gln284=) rs1044807296

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