ClinVar Miner

List of variants studied for Hereditary cancer-predisposing syndrome by Mendelics

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Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_002907.4(RECQL):c.1798-2A>T rs756192830 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) rs147610182 0.00110
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter) rs142038240 0.00088
NM_002907.4(RECQL):c.395-9C>T rs560242370 0.00082
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr) rs149763880 0.00037
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_002907.4(RECQL):c.518T>A (p.Val173Asp) rs144313838 0.00019
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_002907.4(RECQL):c.86C>T (p.Thr29Met) rs145067169 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) rs142527605 0.00010
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn) rs878855107 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_002907.4(RECQL):c.17-15C>T rs200928682 0.00006
NM_002907.4(RECQL):c.395-7C>T rs760078101 0.00006
NM_005431.2(XRCC2):c.509A>C (p.Glu170Ala) rs778143946 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_002907.4(RECQL):c.1781C>T (p.Thr594Met) rs372947261 0.00004
NM_002907.4(RECQL):c.426del (p.Met144fs) rs753723230 0.00004
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter) rs572725483 0.00004
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met) rs775565256 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) rs756116550 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu) rs143856570 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_002907.4(RECQL):c.502-10C>T rs1565569497 0.00002
NM_002907.4(RECQL):c.868-10T>A rs752255394 0.00002
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) rs762828701 0.00002
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly) rs773001248 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter) rs180177110 0.00002
NM_002907.4(RECQL):c.1216+3A>G rs372364772 0.00001
NM_002907.4(RECQL):c.1382A>G (p.His461Arg) rs201573409 0.00001
NM_002907.4(RECQL):c.431T>C (p.Met144Thr) rs751285035 0.00001
NM_002907.4(RECQL):c.501+3A>G rs929469507 0.00001
NM_002907.4(RECQL):c.889A>G (p.Thr297Ala) rs146080041 0.00001
NM_005431.2(XRCC2):c.714G>C (p.Arg238Ser) rs534746330 0.00001
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773 0.00001
NM_024675.4(PALB2):c.108+1G>A rs1060499814 0.00001
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) rs1257545151 0.00001
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) rs180177100 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg) rs760045493 0.00001
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn) rs587782765 0.00001
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051 0.00001
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser) rs370908330 0.00001
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly) rs45504298 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys) rs1347982621 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_000059.4(BRCA2):c.475+10A>G
NM_001113378.2(FANCI):c.1583+4T>C
NM_002907.4(RECQL):c.-45-1G>A rs756434860
NM_002907.4(RECQL):c.-67T>C rs1172083327
NM_002907.4(RECQL):c.1099-2A>G rs1591973610
NM_002907.4(RECQL):c.120dup (p.Val41fs) rs745659712
NM_002907.4(RECQL):c.1253A>C (p.Tyr418Ser) rs1295951241
NM_002907.4(RECQL):c.1339T>C (p.Cys447Arg) rs113415183
NM_002907.4(RECQL):c.1694C>G (p.Ala565Gly) rs1248986058
NM_002907.4(RECQL):c.1750C>T (p.His584Tyr) rs1318382161
NM_002907.4(RECQL):c.1798-2_1798-1del rs1591964988
NM_002907.4(RECQL):c.1798-2_1798-1insT rs1565560075
NM_002907.4(RECQL):c.1801G>T (p.Glu601Ter) rs1383372186
NM_002907.4(RECQL):c.1808C>T (p.Ser603Phe) rs767841512
NM_002907.4(RECQL):c.1817G>T (p.Cys606Phe) rs1191345404
NM_002907.4(RECQL):c.214+6C>T rs768701992
NM_002907.4(RECQL):c.215-20_223del rs1591988737
NM_002907.4(RECQL):c.292G>T (p.Glu98Ter) rs1010112210
NM_002907.4(RECQL):c.371A>T (p.Gln124Leu) rs1183902842
NM_002907.4(RECQL):c.395-7del rs1591984814
NM_002907.4(RECQL):c.487G>T (p.Ala163Ser) rs1565570972
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer) rs1565570957
NM_002907.4(RECQL):c.501+15C>T rs373601640
NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs) rs1591981391
NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs) rs1565569139
NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs) rs1591981379
NM_002907.4(RECQL):c.82C>T (p.Leu28Phe) rs1565574166
NM_002907.4(RECQL):c.933A>T (p.Arg311Ser) rs1565565568
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.574T>C (p.Phe192Leu) rs1563026024
NM_005431.2(XRCC2):c.679C>G (p.Leu227Val) rs1384417628
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) rs946075316
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser) rs771671971
NM_006218.4(PIK3CA):c.1139A>T (p.Asn380Ile) rs202013300
NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val) rs1427967136
NM_006218.4(PIK3CA):c.1384A>G (p.Thr462Ala) rs1242912405
NM_006218.4(PIK3CA):c.2219G>A (p.Arg740Lys) rs1560147074
NM_006218.4(PIK3CA):c.500A>G (p.Tyr167Cys) rs761264437
NM_006218.4(PIK3CA):c.563G>A (p.Gly188Glu) rs1560138278
NM_006218.4(PIK3CA):c.813+4A>G rs1560138415
NM_016222.4(DDX41):c.1302+3G>A
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) rs1060502757
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp) rs786202943
NM_024675.4(PALB2):c.1424dup (p.Arg476fs) rs1555461294
NM_024675.4(PALB2):c.1539dup (p.Gly514fs) rs1567220784
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys) rs1184603042
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe) rs876659671
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter) rs1567218690
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) rs71379822
NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs) rs1567218036
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.226del (p.Ile76fs) rs587782443
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser) rs1567217401
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.2927G>C (p.Arg976Thr) rs1567213697
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer) rs587781840
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.3008del (p.Asn1003fs) rs1567213009
NM_024675.4(PALB2):c.3027del (p.Glu1010fs) rs876659378
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala) rs1567212837
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu) rs1567209813
NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser) rs1567206945
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.38A>G (p.Glu13Gly) rs876658288
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter) rs730881884
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter) rs1567224232
NM_024675.4(PALB2):c.538G>A (p.Glu180Lys) rs750782778
NM_024675.4(PALB2):c.715del (p.Arg239fs) rs1567222476
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter) rs878855123
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe) rs200144401
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) rs1057518847
NM_198253.3(TERT):c.1610G>A (p.Arg537His) rs1272053273

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