ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "likely benign" from any submitter

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 160
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120 0.00075
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln) rs151273553 0.00046
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met) rs138478808 0.00034
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817 0.00029
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074 0.00028
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala) rs374746213 0.00027
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) rs144030155 0.00023
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000245.4(MET):c.1412G>A (p.Gly471Glu) rs373312981 0.00016
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr) rs149547604 0.00016
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) rs140079759 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val) rs147567317 0.00011
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys) rs143247306 0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791 0.00011
NM_177438.3(DICER1):c.4804G>A (p.Ala1602Thr) rs145669719 0.00011
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro) rs372967646 0.00011
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro) rs141214900 0.00010
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_003072.5(SMARCA4):c.1812+3G>A rs371562008 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser) rs367880372 0.00008
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000038.6(APC):c.1408+3A>G rs534358523 0.00007
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser) rs757175768 0.00007
NM_002691.4(POLD1):c.2178G>C (p.Gln726His) rs747483140 0.00007
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_002691.4(POLD1):c.2717+15G>A rs372493810 0.00006
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_024675.4(PALB2):c.929G>A (p.Ser310Asn) rs370887726 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr) rs200408568 0.00006
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile) rs145191978 0.00005
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys) rs372182377 0.00005
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573 0.00004
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val) rs587780699 0.00004
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) rs553752236 0.00004
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser) rs147925149 0.00004
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417 0.00004
NM_144997.7(FLCN):c.1418T>C (p.Val473Ala) rs144883828 0.00004
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu) rs201358110 0.00004
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile) rs755345693 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val) rs774440323 0.00003
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_007294.4(BRCA1):c.5075-6C>A rs397507240 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn) rs934837854 0.00002
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser) rs398122745 0.00001
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys) rs786202543 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala) rs1060502284 0.00001
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) rs759079385 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser) rs375431906 0.00001
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497 0.00001
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) rs754276150 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967 0.00001
NM_001042492.3(NF1):c.3315-5C>T rs1266211447 0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu) rs745601745 0.00001
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144 0.00001
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser) rs587782190 0.00001
NM_020975.6(RET):c.2801+9G>A rs780912886 0.00001
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249 0.00001
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys) rs549532374 0.00001
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro) rs142919010
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met) rs201605273
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000548.5(TSC2):c.2838-3T>C rs553942147
NM_000548.5(TSC2):c.5069-10G>A
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_004064.5(CDKN1B):c.326T>A (p.Val109Asp) rs2066827
NM_004360.5(CDH1):c.1566-8C>G rs587780114
NM_004655.4(AXIN2):c.1743C>T (p.Arg581=) rs774932064

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