ClinVar Miner

List of variants reported as benign for female reproductive organ cancer by Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 370
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_000044.6(AR):c.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674 0.00025
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) rs371602600 0.00020
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys) rs374954001 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_004260.4(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036 0.00013
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229 0.00011
NM_005228.5(EGFR):c.61G>A (p.Ala21Thr) rs373129709 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) rs397514549 0.00010
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_004260.4(RECQL4):c.646G>A (p.Glu216Lys) rs201301365 0.00009
NM_005732.4(RAD50):c.760C>T (p.Arg254Cys) rs555367432 0.00009
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met) rs143344944 0.00009
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys) rs544222338 0.00006
NM_000264.5(PTCH1):c.4025G>A (p.Arg1342His) rs575146278 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_005591.4(MRE11):c.863G>A (p.Arg288His) rs190142346 0.00006
NM_020975.6(RET):c.224C>T (p.Thr75Met) rs142641173 0.00006
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn) rs201589909 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000553.6(WRN):c.2128A>G (p.Ile710Val) rs180814740 0.00005
NM_001018115.3(FANCD2):c.2068G>A (p.Asp690Asn) rs534038231 0.00005
NM_002354.3(EPCAM):c.298G>A (p.Asp100Asn) rs149274310 0.00005
NM_004260.4(RECQL4):c.215C>T (p.Ala72Val) rs763453097 0.00005
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004629.2(FANCG):c.55A>G (p.Lys19Glu) rs186641344 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) rs528724202 0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly) rs587780611 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000123.4(ERCC5):c.2995T>G (p.Leu999Val) rs368550097 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000251.3(MSH2):c.2516A>G (p.His839Arg) rs63750027 0.00004
NM_000369.5(TSHR):c.394G>C (p.Gly132Arg) rs760874290 0.00004
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_001040108.2(MLH3):c.3406G>A (p.Glu1136Lys) rs113490514 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001211.6(BUB1B):c.2030G>A (p.Arg677His) rs557521971 0.00004
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_004260.4(RECQL4):c.1060G>A (p.Val354Ile) rs551940973 0.00004
NM_004260.4(RECQL4):c.1321C>T (p.Pro441Ser) rs557142414 0.00004
NM_004260.4(RECQL4):c.3218C>T (p.Thr1073Ile) rs775225569 0.00004
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
NM_005591.4(MRE11):c.1052G>A (p.Arg351His) rs587780133 0.00004
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483 0.00003
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu) rs183760697 0.00003
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met) rs777032467 0.00003
NM_000179.3(MSH6):c.229C>T (p.Arg77Trp) rs745442468 0.00003
NM_000222.3(KIT):c.182C>T (p.Pro61Leu) rs557317141 0.00003
NM_000245.4(MET):c.617T>C (p.Phe206Ser) rs746295363 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) rs17847568 0.00003
NM_001018115.3(FANCD2):c.3419T>G (p.Val1140Gly) rs781064333 0.00003
NM_005432.4(XRCC3):c.925G>A (p.Gly309Ser) rs532124840 0.00003
NM_005591.4(MRE11):c.677C>G (p.Thr226Ser) rs201276188 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_000038.6(APC):c.280C>A (p.Arg94Ser) rs550945533 0.00002
NM_000038.6(APC):c.5758C>G (p.Arg1920Gly) rs587779800 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) rs779746222 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr) rs368528885 0.00002
NM_000264.5(PTCH1):c.4210A>G (p.Thr1404Ala) rs201873008 0.00002
NM_000455.5(STK11):c.1168G>A (p.Val390Met) rs374078532 0.00002
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) rs16852741 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_004260.4(RECQL4):c.1780G>A (p.Ala594Thr) rs376364416 0.00002
NM_004260.4(RECQL4):c.280C>T (p.Pro94Ser) rs1359100897 0.00002
NM_004304.5(ALK):c.1837G>A (p.Ala613Thr) rs61744521 0.00002
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val) rs757615099 0.00002
NM_004360.5(CDH1):c.371G>A (p.Arg124His) rs115418995 0.00002
NM_004484.4(GPC3):c.367A>G (p.Lys123Glu) rs755733724 0.00002
NM_004629.2(FANCG):c.1292T>G (p.Met431Arg) rs759285011 0.00002
NM_004629.2(FANCG):c.1702A>G (p.Thr568Ala) rs750212705 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_020975.6(RET):c.406G>A (p.Glu136Lys) rs79014735 0.00002
NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn) rs769489773 0.00002
NM_207122.2(EXT2):c.497G>A (p.Arg166His) rs772821141 0.00002
NM_000038.6(APC):c.2733A>T (p.Glu911Asp) rs770018276 0.00001
NM_000038.6(APC):c.5264C>T (p.Ala1755Val) rs771967537 0.00001
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.3190A>G (p.Met1064Val) rs79431304 0.00001
NM_000051.4(ATM):c.7289A>G (p.His2430Arg) rs786202856 0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549 0.00001
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) rs276174818 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.5970T>G (p.Asp1990Glu) rs1064794160 0.00001
NM_000075.4(CDK4):c.800C>T (p.Ser267Leu) rs1157646541 0.00001
NM_000122.2(ERCC3):c.1079G>A (p.Arg360His) rs764062606 0.00001
NM_000123.4(ERCC5):c.3533G>A (p.Arg1178His) rs188710607 0.00001
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly) rs1368926188 0.00001
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val) rs199599499 0.00001
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys) rs377216828 0.00001
NM_000222.3(KIT):c.1210G>A (p.Ala404Thr) rs1272269119 0.00001
NM_000222.3(KIT):c.1312A>G (p.Ile438Val) rs780382854 0.00001
NM_000222.3(KIT):c.1951A>T (p.Met651Leu) rs534209826 0.00001
NM_000245.4(MET):c.3152T>C (p.Val1051Ala) rs1319458719 0.00001
NM_000249.4(MLH1):c.452C>T (p.Thr151Met) rs776969475 0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) rs587781505 0.00001
NM_000251.3(MSH2):c.2447A>G (p.Gln816Arg) rs768572053 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His) rs786201507 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000455.5(STK11):c.1217C>T (p.Ala406Val) rs748202003 0.00001
NM_000465.4(BARD1):c.1601C>T (p.Thr534Ile) rs374293292 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro) rs1425816147 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000553.6(WRN):c.1145A>G (p.Lys382Arg) rs541455377 0.00001
NM_000553.6(WRN):c.172G>A (p.Asp58Asn) rs773803207 0.00001
NM_000553.6(WRN):c.4102G>A (p.Asp1368Asn) rs1163698357 0.00001
NM_000553.6(WRN):c.830A>C (p.Asn277Thr) rs749379604 0.00001
NM_001040108.2(MLH3):c.2846A>C (p.Lys949Thr) rs766819210 0.00001
NM_001211.6(BUB1B):c.977A>G (p.Asn326Ser) rs774654439 0.00001
NM_004064.5(CDKN1B):c.365C>T (p.Pro122Leu) rs146973564 0.00001
NM_004260.4(RECQL4):c.2830C>T (p.His944Tyr) rs527454830 0.00001
NM_004260.4(RECQL4):c.626G>A (p.Arg209Lys) rs753018522 0.00001
NM_004260.4(RECQL4):c.682C>T (p.Leu228Phe) rs1316434470 0.00001
NM_004260.4(RECQL4):c.988G>A (p.Ala330Thr) rs757933716 0.00001
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) rs113994090 0.00001
NM_004304.5(ALK):c.357G>T (p.Glu119Asp) rs758250431 0.00001
NM_004360.5(CDH1):c.1516A>G (p.Thr506Ala) rs114885938 0.00001
NM_004360.5(CDH1):c.2071G>A (p.Ala691Thr) rs876660560 0.00001
NM_004655.4(AXIN2):c.1289G>A (p.Ser430Asn) rs202215840 0.00001
NM_004655.4(AXIN2):c.1520C>T (p.Thr507Ile) rs1207102247 0.00001
NM_004655.4(AXIN2):c.1933C>T (p.Pro645Ser) rs1405864888 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.3869A>C (p.Lys1290Thr) rs1156612738 0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) rs201766077 0.00001
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser) rs747022200 0.00001
NM_018127.7(ELAC2):c.50C>T (p.Ser17Leu) rs765096739 0.00001
NM_020975.6(RET):c.1052T>A (p.Val351Glu) rs749449032 0.00001
NM_020975.6(RET):c.1216A>G (p.Ser406Gly) rs756532455 0.00001
NM_020975.6(RET):c.1618A>G (p.Arg540Gly) rs543376293 0.00001
NM_024426.6(WT1):c.980G>A (p.Ser327Asn) rs1308955642 0.00001
NM_024675.4(PALB2):c.113C>T (p.Ala38Val) rs371875379 0.00001
NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg) rs767830005 0.00001
NM_177438.3(DICER1):c.1807C>A (p.Pro603Thr) rs1060503614 0.00001
NM_177438.3(DICER1):c.2038G>A (p.Val680Ile) rs201883449 0.00001
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn) rs373412959 0.00001
NM_177438.3(DICER1):c.4873T>C (p.Ser1625Pro) rs529131866 0.00001
NM_000038.6(APC):c.235A>G (p.Ser79Gly) rs1001856924
NM_000038.6(APC):c.3376A>G (p.Ser1126Gly) rs1561584350
NM_000038.6(APC):c.3746G>C (p.Cys1249Ser)
NM_000038.6(APC):c.6209G>T (p.Gly2070Val)
NM_000038.6(APC):c.715G>C (p.Ala239Pro) rs777760565
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
NM_000044.6(AR):c.1585G>T (p.Asp529Tyr)
NM_000044.6(AR):c.173A>G (p.Gln58Arg)
NM_000044.6(AR):c.289C>T (p.Pro97Ser)
NM_000044.6(AR):c.626G>A (p.Gly209Glu)
NM_000044.6(AR):c.758C>T (p.Ala253Val)
NM_000044.6(AR):c.896C>T (p.Ala299Val)
NM_000051.4(ATM):c.1013A>G (p.Asn338Ser)
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.4(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr) rs786203785
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu) rs764478418
NM_000051.4(ATM):c.8530A>C (p.Ile2844Leu) rs756230327
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg) rs1895978967
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.400A>G (p.Thr134Ala)
NM_000059.4(BRCA2):c.1871C>T (p.Ala624Val) rs769698255
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn) rs1270552356
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr) rs1204909245
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala) rs1566233345
NM_000059.4(BRCA2):c.9545A>C (p.His3182Pro)
NM_000077.5(CDKN2A):c.296G>A (p.Arg99Gln) rs754806883
NM_000107.3(DDB2):c.100G>T (p.Ala34Ser)
NM_000122.2(ERCC3):c.1267G>A (p.Ala423Thr)
NM_000122.2(ERCC3):c.1270G>A (p.Glu424Lys)
NM_000122.2(ERCC3):c.1589G>A (p.Arg530Gln)
NM_000122.2(ERCC3):c.1769T>G (p.Met590Arg)
NM_000122.2(ERCC3):c.36G>C (p.Lys12Asn)
NM_000123.4(ERCC5):c.1798G>A (p.Val600Met)
NM_000123.4(ERCC5):c.2108A>G (p.Asp703Gly)
NM_000123.4(ERCC5):c.3203C>T (p.Ser1068Leu)
NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
NM_000127.3(EXT1):c.229A>C (p.Ser77Arg)
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
NM_000135.4(FANCA):c.196G>C (p.Gly66Arg)
NM_000135.4(FANCA):c.3700A>G (p.Ile1234Val) rs1598063117
NM_000136.3(FANCC):c.1529C>A (p.Thr510Asn) rs1233501553
NM_000179.3(MSH6):c.1085C>T (p.Pro362Leu)
NM_000179.3(MSH6):c.2156C>G (p.Thr719Ser) rs373418713
NM_000179.3(MSH6):c.2422G>A (p.Val808Ile) rs1434578765
NM_000179.3(MSH6):c.2636C>G (p.Ala879Gly)
NM_000179.3(MSH6):c.2899A>G (p.Ile967Val) rs876661067
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000222.3(KIT):c.240T>A (p.Asn80Lys) rs1553887329
NM_000222.3(KIT):c.867G>C (p.Met289Ile) rs1297145844
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.4145G>T (p.Arg1382Leu) rs752694306
NM_000249.4(MLH1):c.1441A>G (p.Met481Val) rs559012648
NM_000249.4(MLH1):c.1457C>T (p.Ser486Phe) rs532873141
NM_000249.4(MLH1):c.1489C>G (p.Arg497Gly) rs200830026
NM_000251.3(MSH2):c.1711G>A (p.Glu571Lys)
NM_000264.5(PTCH1):c.1938C>A (p.Ser646Arg)
NM_000264.5(PTCH1):c.3805G>C (p.Val1269Leu)
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr)
NM_000321.3(RB1):c.2455C>G (p.Leu819Val) rs375751988
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
NM_000368.5(TSC1):c.3427C>G (p.Pro1143Ala)
NM_000368.5(TSC1):c.848C>T (p.Ala283Val) rs1554817613
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
NM_000369.5(TSHR):c.2279T>C (p.Met760Thr)
NM_000369.5(TSHR):c.332C>T (p.Thr111Ile)
NM_000380.4(XPA):c.292A>G (p.Met98Val)
NM_000400.4(ERCC2):c.676G>T (p.Ala226Ser) rs753696173
NM_000458.4(HNF1B):c.94G>A (p.Glu32Lys)
NM_000465.4(BARD1):c.1077G>T (p.Leu359Phe) rs864622283
NM_000465.4(BARD1):c.278A>G (p.Gln93Arg)
NM_000534.5(PMS1):c.1145A>C (p.Asn382Thr)
NM_000534.5(PMS1):c.1427A>G (p.Asp476Gly)
NM_000534.5(PMS1):c.1603A>G (p.Ile535Val)
NM_000534.5(PMS1):c.2230G>A (p.Val744Ile)
NM_000534.5(PMS1):c.2338G>A (p.Glu780Lys)
NM_000534.5(PMS1):c.677A>C (p.Gln226Pro)
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.643G>A (p.Val215Ile) rs1064794017
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000548.5(TSC2):c.196G>C (p.Glu66Gln)
NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr) rs764840082
NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg) rs1320400029
NM_000551.4(VHL):c.70G>A (p.Gly24Ser) rs1438223626
NM_000553.6(WRN):c.2632C>T (p.His878Tyr)
NM_000904.6(NQO2):c.47A>G (p.Lys16Arg)
NM_001018115.3(FANCD2):c.3494G>A (p.Arg1165Gln) rs549507714
NM_001040108.2(MLH3):c.1352G>A (p.Ser451Asn) rs1566607594
NM_001040108.2(MLH3):c.1982C>T (p.Thr661Ile) rs1892346320
NM_001040108.2(MLH3):c.2152C>T (p.Pro718Ser)
NM_001040108.2(MLH3):c.3610A>G (p.Met1204Val)
NM_001042492.3(NF1):c.1045A>T (p.Met349Leu)
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile) rs2151438517
NM_001042492.3(NF1):c.7015G>A (p.Glu2339Lys)
NM_001142556.2(HMMR):c.167T>A (p.Val56Asp)
NM_001142556.2(HMMR):c.1690G>A (p.Ala564Thr)
NM_001211.6(BUB1B):c.3119A>G (p.Lys1040Arg)
NM_001211.6(BUB1B):c.992T>C (p.Ile331Thr)
NM_001365951.3(KIF1B):c.3767T>C (p.Phe1256Ser)
NM_001378743.1(CYLD):c.1004A>G (p.Asn335Ser)
NM_001378743.1(CYLD):c.1189C>A (p.Arg397Ser)
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu) rs1563532612
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg) rs775848374
NM_002634.4(PHB1):c.64G>A (p.Val22Met)
NM_002875.5(RAD51):c.225+719A>C
NM_003000.3(SDHB):c.406A>G (p.Ile136Val) rs2078004347
NM_003000.3(SDHB):c.708C>G (p.Asp236Glu)
NM_003924.4(PHOX2B):c.657C>G (p.Ser219Arg)
NM_003924.4(PHOX2B):c.740C>G (p.Ala247Gly)
NM_003924.4(PHOX2B):c.776C>G (p.Ala259Gly)
NM_004064.5(CDKN1B):c.367G>A (p.Ala123Thr) rs1946496773
NM_004260.4(RECQL4):c.3284A>G (p.Glu1095Gly)
NM_004304.5(ALK):c.1375C>G (p.Gln459Glu) rs1466204048
NM_004304.5(ALK):c.4343C>T (p.Ser1448Phe) rs1553387094
NM_004304.5(ALK):c.4447T>C (p.Ser1483Pro)
NM_004304.5(ALK):c.4584C>A (p.His1528Gln) rs746470148
NM_004304.5(ALK):c.707C>G (p.Pro236Arg)
NM_004628.5(XPC):c.2163G>T (p.Glu721Asp)
NM_004628.5(XPC):c.332A>T (p.His111Leu)
NM_004629.2(FANCG):c.1157C>G (p.Pro386Arg) rs141147618
NM_004629.2(FANCG):c.29C>T (p.Ser10Phe)
NM_004629.2(FANCG):c.562G>C (p.Ala188Pro)
NM_004655.4(AXIN2):c.1066C>T (p.His356Tyr)
NM_004655.4(AXIN2):c.1987T>G (p.Trp663Gly) rs770763142
NM_004655.4(AXIN2):c.23C>T (p.Thr8Ile) rs2144592269
NM_005228.5(EGFR):c.1705A>G (p.Ile569Val) rs1785823693
NM_005228.5(EGFR):c.1873A>C (p.Thr625Pro)
NM_005228.5(EGFR):c.3360C>A (p.Ser1120Arg)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) rs1851245429
NM_005432.4(XRCC3):c.454C>A (p.Gln152Lys)
NM_005432.4(XRCC3):c.811G>A (p.Gly271Arg)
NM_005591.4(MRE11):c.1165G>A (p.Val389Ile) rs876660518
NM_005732.4(RAD50):c.1829A>G (p.His610Arg) rs527518431
NM_006206.6(PDGFRA):c.2315C>A (p.Ser772Tyr) rs1577735147
NM_006206.6(PDGFRA):c.334C>T (p.Leu112Phe) rs1722706795
NM_006206.6(PDGFRA):c.35G>C (p.Gly12Ala) rs1440200916
NM_007294.4(BRCA1):c.2131A>G (p.Lys711Glu) rs747046197
NM_007294.4(BRCA1):c.2515C>T (p.His839Tyr)
NM_007294.4(BRCA1):c.5137G>A (p.Val1713Ile) rs1064793309
NM_015905.3(TRIM24):c.2338T>A (p.Ser780Thr)
NM_015905.3(TRIM24):c.259C>T (p.Arg87Cys)
NM_015905.3(TRIM24):c.2899G>A (p.Ala967Thr)
NM_015905.3(TRIM24):c.76G>A (p.Ala26Thr)
NM_015906.4(TRIM33):c.1210G>A (p.Gly404Ser)
NM_015906.4(TRIM33):c.236C>T (p.Ser79Leu)
NM_015906.4(TRIM33):c.2477G>C (p.Ser826Thr)
NM_015906.4(TRIM33):c.412G>A (p.Ala138Thr)
NM_017841.4(SDHAF2):c.194C>G (p.Thr65Ser) rs752462796
NM_018127.7(ELAC2):c.497G>A (p.Arg166Gln)
NM_020975.6(RET):c.1385C>T (p.Ser462Leu) rs1313331250
NM_020975.6(RET):c.376T>C (p.Phe126Leu) rs2132678531
NM_020975.6(RET):c.733G>A (p.Val245Met) rs1837733068
NM_020975.6(RET):c.959C>T (p.Pro320Leu) rs1837779952
NM_021133.4(RNASEL):c.1251G>C (p.Leu417Phe)
NM_021133.4(RNASEL):c.2152C>A (p.Gln718Lys)
NM_021133.4(RNASEL):c.918G>A (p.Met306Ile)
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro) rs1225225979
NM_021922.3(FANCE):c.161G>A (p.Gly54Asp)
NM_021922.3(FANCE):c.358A>G (p.Ile120Val) rs201961713
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr) rs1330517530
NM_022725.4(FANCF):c.394A>G (p.Ser132Gly)
NM_024426.6(WT1):c.281G>A (p.Gly94Asp)
NM_024426.6(WT1):c.461C>T (p.Ala154Val)
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.933A>C (p.Lys311Asn)
NM_032839.3(SLC49A4):c.112C>T (p.Pro38Ser)
NM_032839.3(SLC49A4):c.1133C>A (p.Thr378Asn)
NM_032839.3(SLC49A4):c.1189G>A (p.Val397Met)
NM_058216.3(RAD51C):c.107A>G (p.Glu36Gly)
NM_130439.3(MXI1):c.343C>T (p.Pro115Ser)
NM_138715.3(MSR1):c.10T>A (p.Trp4Arg)
NM_138715.3(MSR1):c.482C>A (p.Thr161Asn)
NM_138715.3(MSR1):c.833C>T (p.Pro278Leu) rs764485699
NM_144997.7(FLCN):c.1085G>T (p.Arg362Leu) rs559055296
NM_144997.7(FLCN):c.1141G>A (p.Val381Met) rs1347669124
NM_144997.7(FLCN):c.1283C>G (p.Pro428Arg) rs199889477
NM_144997.7(FLCN):c.1306G>A (p.Ala436Thr) rs2144840565
NM_144997.7(FLCN):c.1428C>A (p.Asp476Glu)
NM_144997.7(FLCN):c.319G>A (p.Val107Ile) rs1372666497
NM_144997.7(FLCN):c.754G>T (p.Ala252Ser)
NM_177438.3(DICER1):c.1706T>C (p.Ile569Thr) rs1555372847
NM_177438.3(DICER1):c.2608A>G (p.Thr870Ala) rs1566776633
NM_177438.3(DICER1):c.4808T>C (p.Leu1603Pro) rs1464874776
NM_177438.3(DICER1):c.484G>T (p.Gly162Cys) rs1595459155
NM_207122.2(EXT2):c.-31+465A>G

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