ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Athena Diagnostics Inc and "pathogenic" from any submitter

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 197
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302 0.00013
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_022089.4(ATP13A2):c.477+2T>G rs758014228 0.00009
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) rs80338694 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_001851.6(COL9A1):c.1120G>T (p.Glu374Ter) rs374843706 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471 0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln) rs104886308 0.00002
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile) rs121909765 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_014363.6(SACS):c.434C>G (p.Ser145Ter) rs994374354 0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_213599.3(ANO5):c.2470del (p.Gln824fs) rs770694933 0.00001
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe) rs63750248
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000054.7(AVPR2):c.965C>T (p.Pro322Leu)
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) rs1180658535
NM_000091.5(COL4A3):c.1933del (p.Arg645fs) rs1559890140
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter) rs534522842
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter) rs1408907127
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1099G>A (p.Val367Met) rs1057521092
NM_000162.5(GCK):c.1136C>T (p.Ala379Val) rs193922265
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly) rs193922281
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.185T>C (p.Val62Ala) rs1444739794
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.666del (p.Gly223fs) rs2096278285
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) rs764247288
NM_000344.4(SMN1):c.584del (p.Pro195fs) rs1561499748
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter) rs1554081950
NM_000371.4(TTR):c.193G>A (p.Ala65Thr) rs121918078
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.518T>C (p.Leu173Pro) rs2107631736
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000454.5(SOD1):c.50G>C (p.Gly17Ala) rs1200906022
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000486.6(AQP2):c.97_119del (p.Asn33fs) rs772201159
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000530.8(MPZ):c.200_201del (p.Arg67fs) rs1670284480
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.278G>A (p.Gly93Glu) rs1060503418
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_001009944.3(PKD1):c.11525G>A (p.Trp3842Ter) rs1596481464
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs) rs779407815
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001292063.2(OTOG):c.499del (p.Val167fs) rs876657657
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs) rs751035912
NM_001378452.1(ITPR1):c.7793T>C (p.Ile2598Thr) rs1553758021
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001379500.1(COL18A1):c.1593del (p.Pro534fs) rs778909108
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002693.3(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004320.6(ATP2A1):c.2464dup (p.Arg822fs) rs751365374
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_006767.4(LZTR1):c.628dup (p.Arg210fs) rs1457594219
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_007217.4(PDCD10):c.150+1G>A rs1553762839
NM_014053.4(FLVCR1):c.1500G>A (p.Trp500Ter)
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter) rs1156566314
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter) rs1593133714
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs) rs779248938
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_015346.4(ZFYVE26):c.7041C>A (p.Cys2347Ter) rs370837940
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_031443.4(CCM2):c.30+5_30+6delinsTT rs797044623
NM_033380.3(COL4A5):c.1779+1G>A rs104886337
NM_033380.3(COL4A5):c.458G>T (p.Gly153Val) rs1569488946
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln) rs1085307913
NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln) rs1555816615
NM_182961.4(SYNE1):c.11971_11974del (p.Ile3991fs) rs1246610728
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter) rs886043300
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.