ClinVar Miner

List of variants in gene SBF2 studied for Inborn genetic diseases

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00074
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly) rs201951073 0.00046
NM_030962.4(SBF2):c.291G>A (p.Lys97=) rs150056369 0.00039
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.280-5T>C rs368118378 0.00009
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln) rs775059182 0.00007
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe) rs764058215 0.00005
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp) rs750938785 0.00005
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=) rs368381654 0.00005
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.1396-6T>C rs369973804 0.00004
NM_030962.4(SBF2):c.1569G>A (p.Lys523=) rs776951161 0.00004
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=) rs201514622 0.00004
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe) rs1442358051 0.00004
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=) rs769205402 0.00003
NM_030962.4(SBF2):c.566A>G (p.His189Arg) rs764000654 0.00003
NM_030962.4(SBF2):c.898A>G (p.Ile300Val) rs141669540 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile) rs1372841015 0.00002
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr) rs371432409 0.00002
NM_030962.4(SBF2):c.1164C>T (p.His388=) rs959559753 0.00002
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu) rs765958389 0.00002
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser) rs1310790545 0.00002
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr) rs753626252 0.00002
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn) rs774935915 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val) rs1048725630 0.00002
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu) rs746246566 0.00002
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val) rs996602317 0.00001
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr) rs759009170 0.00001
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) rs185968327 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala) rs753811515 0.00001
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr) rs1443759629 0.00001
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746 0.00001
NM_030962.4(SBF2):c.402+5A>G rs1060503800 0.00001
NM_030962.4(SBF2):c.4068G>A (p.Leu1356=) rs1429589073 0.00001
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr) rs753564262 0.00001
NM_030962.4(SBF2):c.4258-4C>G rs757097139 0.00001
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser) rs1312716983 0.00001
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=) rs1370306059 0.00001
NM_030962.4(SBF2):c.4509C>T (p.His1503=) rs138816399 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.942A>G (p.Pro314=) rs753903194 0.00001
NM_030962.4(SBF2):c.1003G>A (p.Asp335Asn)
NM_030962.4(SBF2):c.1063G>A (p.Val355Met)
NM_030962.4(SBF2):c.1103A>G (p.Gln368Arg) rs1947510624
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys) rs2134469917
NM_030962.4(SBF2):c.128A>G (p.Gln43Arg)
NM_030962.4(SBF2):c.1413T>A (p.His471Gln) rs769911496
NM_030962.4(SBF2):c.1413T>G (p.His471Gln)
NM_030962.4(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.4(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.4(SBF2):c.1601-3T>G rs2134369689
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu) rs775279773
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.1784A>G (p.His595Arg)
NM_030962.4(SBF2):c.229C>T (p.Arg77Ter)
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
NM_030962.4(SBF2):c.343G>T (p.Val115Leu)
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
NM_030962.4(SBF2):c.3536G>C (p.Arg1179Pro)
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu) rs1949238001
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.4(SBF2):c.3622C>G (p.Leu1208Val)
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
NM_030962.4(SBF2):c.3653-4A>G
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile) rs1439541685
NM_030962.4(SBF2):c.3706C>T (p.Gln1236Ter)
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val) rs1270676073
NM_030962.4(SBF2):c.3817A>T (p.Ser1273Cys)
NM_030962.4(SBF2):c.3824G>T (p.Arg1275Leu)
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.4(SBF2):c.3847T>C (p.Phe1283Leu)
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_030962.4(SBF2):c.3862G>A (p.Ala1288Thr)
NM_030962.4(SBF2):c.3878A>G (p.Lys1293Arg)
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.4(SBF2):c.3923A>G (p.Gln1308Arg)
NM_030962.4(SBF2):c.3955T>C (p.Phe1319Leu)
NM_030962.4(SBF2):c.3979-4G>A rs375742620
NM_030962.4(SBF2):c.3979-5C>T
NM_030962.4(SBF2):c.4083C>G (p.Ile1361Met)
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
NM_030962.4(SBF2):c.4093A>C (p.Ile1365Leu)
NM_030962.4(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.4(SBF2):c.4351C>T (p.His1451Tyr)
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr) rs1853953374
NM_030962.4(SBF2):c.492C>G (p.Val164=) rs559769224
NM_030962.4(SBF2):c.5495G>A (p.Gly1832Glu)
NM_030962.4(SBF2):c.5534G>A (p.Cys1845Tyr)
NM_030962.4(SBF2):c.574C>G (p.Leu192Val) rs1949129969
NM_030962.4(SBF2):c.715A>G (p.Arg239Gly)
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
NM_030962.4(SBF2):c.807A>T (p.Pro269=) rs1057521879
NM_030962.4(SBF2):c.89G>A (p.Arg30Lys)
NM_030962.4(SBF2):c.970T>A (p.Ser324Thr)
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)

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