ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group P by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly) rs140051968 0.00141
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys) rs144832924 0.00078
NM_032444.4(SLX4):c.339T>C (p.Ser113=) rs144326379 0.00061
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp) rs144273492 0.00059
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_032444.4(SLX4):c.1707G>A (p.Pro569=) rs141687678 0.00044
NM_032444.4(SLX4):c.*882C>T rs578011999 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_032444.4(SLX4):c.*102G>A rs531417263 0.00039
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu) rs147492092 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val) rs149584080 0.00031
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln) rs143558209 0.00030
NM_032444.4(SLX4):c.*311G>A rs749668095 0.00029
NM_032444.4(SLX4):c.-416G>A rs528320603 0.00027
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile) rs147315419 0.00024
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys) rs148547201 0.00024
NM_032444.4(SLX4):c.-271G>A rs149773885 0.00021
NM_032444.4(SLX4):c.*374C>T rs369843531 0.00019
NM_032444.4(SLX4):c.-21G>C rs200717103 0.00019
NM_032444.4(SLX4):c.1829A>G (p.Gln610Arg) rs544935776 0.00019
NM_032444.4(SLX4):c.4580C>T (p.Pro1527Leu) rs149362820 0.00018
NM_032444.4(SLX4):c.537G>T (p.Glu179Asp) rs758789462 0.00017
NM_032444.4(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192 0.00016
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu) rs138618354 0.00015
NM_032444.4(SLX4):c.-398G>A rs559269050 0.00014
NM_032444.4(SLX4):c.4868C>T (p.Ala1623Val) rs200178217 0.00014
NM_032444.4(SLX4):c.*578G>A rs781322530 0.00013
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268 0.00012
NM_032444.4(SLX4):c.398C>T (p.Pro133Leu) rs373586019 0.00012
NM_032444.4(SLX4):c.2437G>A (p.Glu813Lys) rs770020510 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_032444.4(SLX4):c.*168T>G rs886051975 0.00010
NM_032444.4(SLX4):c.1911G>T (p.Ser637=) rs200013924 0.00010
NM_032444.4(SLX4):c.3648G>T (p.Gln1216His) rs139544666 0.00010
NM_032444.4(SLX4):c.*887C>T rs557729822 0.00009
NM_032444.4(SLX4):c.2006G>A (p.Arg669His) rs200807331 0.00009
NM_032444.4(SLX4):c.4409C>T (p.Pro1470Leu) rs72778139 0.00009
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183 0.00008
NM_032444.4(SLX4):c.192A>G (p.Lys64=) rs756720856 0.00007
NM_032444.4(SLX4):c.2484G>C (p.Glu828Asp) rs199656607 0.00007
NM_032444.4(SLX4):c.-19G>A rs113845637 0.00006
NM_032444.4(SLX4):c.-395C>T rs886051984 0.00006
NM_032444.4(SLX4):c.-41A>G rs772911988 0.00006
NM_032444.4(SLX4):c.-46G>A rs113023461 0.00006
NM_032444.4(SLX4):c.2753C>T (p.Thr918Ile) rs781323142 0.00006
NM_032444.4(SLX4):c.3068C>A (p.Ala1023Asp) rs769271628 0.00006
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=) rs139254595 0.00006
NM_032444.4(SLX4):c.5188T>C (p.Ser1730Pro) rs199838670 0.00006
NM_032444.4(SLX4):c.996G>T (p.Gln332His) rs377201471 0.00006
NM_032444.4(SLX4):c.*98A>G rs551538592 0.00005
NM_032444.4(SLX4):c.-602-6C>G rs886051986 0.00005
NM_032444.4(SLX4):c.1941C>T (p.Pro647=) rs540288743 0.00005
NM_032444.4(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241 0.00005
NM_032444.4(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356 0.00005
NM_032444.4(SLX4):c.5371C>T (p.Arg1791Cys) rs371875095 0.00005
NM_032444.4(SLX4):c.1583G>A (p.Ser528Asn) rs752899329 0.00004
NM_032444.4(SLX4):c.1740C>T (p.Ser580=) rs200354014 0.00004
NM_032444.4(SLX4):c.2991G>A (p.Pro997=) rs770736311 0.00004
NM_032444.4(SLX4):c.4740-6C>T rs377066518 0.00004
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His) rs560381786 0.00004
NM_032444.4(SLX4):c.*652A>G rs546917026 0.00003
NM_032444.4(SLX4):c.-399C>T rs1177862096 0.00003
NM_032444.4(SLX4):c.-603+8G>C rs886051987 0.00003
NM_032444.4(SLX4):c.1115G>A (p.Arg372Gln) rs372956623 0.00003
NM_032444.4(SLX4):c.1193G>A (p.Arg398Gln) rs200030312 0.00003
NM_032444.4(SLX4):c.1415T>C (p.Leu472Ser) rs776189589 0.00003
NM_032444.4(SLX4):c.1520G>A (p.Arg507Lys) rs762550449 0.00003
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val) rs199683722 0.00003
NM_032444.4(SLX4):c.1756G>A (p.Ala586Thr) rs764210911 0.00003
NM_032444.4(SLX4):c.1786G>A (p.Gly596Ser) rs144454312 0.00003
NM_032444.4(SLX4):c.2125G>A (p.Val709Met) rs151026877 0.00003
NM_032444.4(SLX4):c.244A>G (p.Asn82Asp) rs202237877 0.00003
NM_032444.4(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490 0.00003
NM_032444.4(SLX4):c.4889C>A (p.Ala1630Asp) rs886051977 0.00003
NM_032444.4(SLX4):c.709C>T (p.Arg237Trp) rs199912910 0.00003
NM_032444.4(SLX4):c.752C>T (p.Ala251Val) rs201117707 0.00003
NM_032444.4(SLX4):c.-305C>T rs886051983 0.00002
NM_032444.4(SLX4):c.-580T>C rs886051985 0.00002
NM_032444.4(SLX4):c.151T>C (p.Phe51Leu) rs769694224 0.00002
NM_032444.4(SLX4):c.2144C>T (p.Pro715Leu) rs749399683 0.00002
NM_032444.4(SLX4):c.3872C>T (p.Thr1291Met) rs754761366 0.00002
NM_032444.4(SLX4):c.3913G>A (p.Ala1305Thr) rs763524714 0.00002
NM_032444.4(SLX4):c.4427C>G (p.Thr1476Ser) rs372321470 0.00002
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=) rs370775954 0.00002
NM_032444.4(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272 0.00002
NM_032444.4(SLX4):c.*1047G>A rs1485693438 0.00001
NM_032444.4(SLX4):c.*1150G>C rs886051972 0.00001
NM_032444.4(SLX4):c.*73G>A rs1461608259 0.00001
NM_032444.4(SLX4):c.*811G>C rs371879504 0.00001
NM_032444.4(SLX4):c.*871A>G rs886051974 0.00001
NM_032444.4(SLX4):c.*957C>T rs886051973 0.00001
NM_032444.4(SLX4):c.-112C>A rs779687936 0.00001
NM_032444.4(SLX4):c.-205G>A rs937724885 0.00001
NM_032444.4(SLX4):c.-616C>T rs886051988 0.00001
NM_032444.4(SLX4):c.112C>T (p.Leu38Phe) rs141167501 0.00001
NM_032444.4(SLX4):c.1163+5G>A rs762454252 0.00001
NM_032444.4(SLX4):c.1324A>C (p.Arg442=) rs886051980 0.00001
NM_032444.4(SLX4):c.13G>A (p.Val5Met) rs750091754 0.00001
NM_032444.4(SLX4):c.1603G>A (p.Ala535Thr) rs776394340 0.00001
NM_032444.4(SLX4):c.1976C>T (p.Ser659Leu) rs372150541 0.00001
NM_032444.4(SLX4):c.2077G>A (p.Val693Ile) rs2040629635 0.00001
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter) rs200715208 0.00001
NM_032444.4(SLX4):c.3087A>T (p.Pro1029=) rs746254787 0.00001
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=) rs1484366381 0.00001
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) rs201582780 0.00001
NM_032444.4(SLX4):c.3410G>C (p.Arg1137Thr) rs1391353238 0.00001
NM_032444.4(SLX4):c.3721C>T (p.Arg1241Cys) rs771835799 0.00001
NM_032444.4(SLX4):c.3912C>T (p.Val1304=) rs140254478 0.00001
NM_032444.4(SLX4):c.4030T>C (p.Ser1344Pro) rs745595506 0.00001
NM_032444.4(SLX4):c.4130C>T (p.Ser1377Leu) rs770241338 0.00001
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=) rs373300793 0.00001
NM_032444.4(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651 0.00001
NM_032444.4(SLX4):c.4684C>T (p.Pro1562Ser) rs893507870 0.00001
NM_032444.4(SLX4):c.4892C>T (p.Ser1631Phe) rs763539738 0.00001
NM_032444.4(SLX4):c.4972G>A (p.Gly1658Arg) rs200507644 0.00001
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter) rs1291935778 0.00001
NM_032444.4(SLX4):c.5042C>T (p.Ser1681Leu) rs530123827 0.00001
NM_032444.4(SLX4):c.5365G>A (p.Gly1789Ser) rs374876624 0.00001
NM_032444.4(SLX4):c.890A>G (p.Gln297Arg) rs778643553 0.00001
NM_032444.4(SLX4):c.*469A>T rs868278470
NM_032444.4(SLX4):c.*493G>T rs530681898
NM_032444.4(SLX4):c.*54A>C rs1596514118
NM_032444.4(SLX4):c.*82C>T rs2040444401
NM_032444.4(SLX4):c.*944A>G rs1032936956
NM_032444.4(SLX4):c.-210G>A rs747849749
NM_032444.4(SLX4):c.-614G>C rs2040876181
NM_032444.4(SLX4):c.-631G>A rs1430818218
NM_032444.4(SLX4):c.1110T>C (p.Ala370=) rs886051981
NM_032444.4(SLX4):c.1193G>C (p.Arg398Pro) rs200030312
NM_032444.4(SLX4):c.1325G>C (p.Arg442Thr) rs886051979
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val) rs1056085
NM_032444.4(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.4(SLX4):c.2187A>G (p.Val729=) rs2040609293
NM_032444.4(SLX4):c.2328-11T>C rs1390856264
NM_032444.4(SLX4):c.2688G>A (p.Val896=) rs758166923
NM_032444.4(SLX4):c.2882C>T (p.Pro961Leu) rs886051978
NM_032444.4(SLX4):c.3027C>T (p.Gly1009=) rs1278706933
NM_032444.4(SLX4):c.360T>C (p.Thr120=) rs886051982
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032444.4(SLX4):c.4580C>A (p.Pro1527Gln) rs149362820
NM_032444.4(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.4(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.4(SLX4):c.5040G>C (p.Arg1680Ser) rs199592185
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu) rs776018346
NM_032444.4(SLX4):c.5153+6C>A rs754209356
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=) rs1596514559
NM_032444.4(SLX4):c.5418C>G (p.Ile1806Met) rs886051976
NM_032444.4(SLX4):c.561G>T (p.Gln187His) rs778738306
NM_032444.4(SLX4):c.738A>G (p.Gln246=) rs905819290
NM_032444.4(SLX4):c.786A>G (p.Pro262=) rs2040736285

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