ClinVar Miner

Variants with conflicting interpretations "likely benign" from Fulgent Genetics, Fulgent Genetics and "uncertain significance" from any submitter

Minimum review status of the submission from Fulgent Genetics, Fulgent Genetics: Collection method of the submission from Fulgent Genetics, Fulgent Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 148
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) rs116420871 0.00367
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00362
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_001206927.2(DNAH8):c.13823C>T (p.Thr4608Met) rs142438011 0.00168
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001737.5(C9):c.974C>T (p.Ala325Val) rs147068084 0.00093
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) rs143427811 0.00086
NM_003907.3(EIF2B5):c.1870-5C>A rs144864475 0.00084
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000091.5(COL4A3):c.274G>C (p.Val92Leu) rs200873401 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_032531.4(KIRREL3):c.908T>C (p.Val303Ala) rs201725914 0.00056
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser) rs116455504 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu) rs143565222 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_003721.4(RFXANK):c.188-11C>T rs201545133 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_004646.4(NPHS1):c.1104G>A (p.Pro368=) rs143178785 0.00015
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) rs148920964 0.00011
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_001876.4(CPT1A):c.525G>A (p.Pro175=) rs371805329 0.00007
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169 0.00004
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 0.00004
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_004646.4(NPHS1):c.1647G>C (p.Thr549=) rs371484897 0.00003
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp) rs374174345 0.00003
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761 0.00003
NM_014140.4(SMARCAL1):c.1761C>T (p.Pro587=) rs781340148 0.00003
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000091.5(COL4A3):c.964T>C (p.Leu322=) rs1213929853 0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_004646.4(NPHS1):c.2523G>A (p.Glu841=) rs1215088730 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=) rs916979346 0.00002
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=) rs1332086842 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_015166.4(MLC1):c.882G>A (p.Pro294=) rs200163312 0.00001
NM_018979.4(WNK1):c.5584-5A>G rs771801197 0.00001
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=) rs752608628 0.00001
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000360.4(TH):c.978-6G>A rs75487597
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000527.5(LDLR):c.1706-10G>A
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_001013838.3(CARMIL2):c.1554C>G (p.Asp518Glu) rs200219135
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn) rs757926043
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001365088.1(SLC12A6):c.1650-7T>C rs752125669
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_006618.5(KDM5B):c.712-4del rs558975598
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727

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