ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego and "likely pathogenic" from any submitter

Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego: Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:
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_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys) rs146013446 0.00070
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_152906.7(TANGO2):c.605+1G>A rs372949028 0.00005
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724 0.00004
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_003560.4(PLA2G6):c.2221C>T (p.Arg741Trp) rs530348521 0.00004
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter) rs376699648 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_003560.4(PLA2G6):c.2035-2A>G rs1602057157 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_006208.3(ENPP1):c.749C>T (p.Pro250Leu) rs754659608 0.00001
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys) rs397509425 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683 0.00001
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) rs421016
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000335.5(SCN5A):c.1218C>A (p.Asn406Lys) rs199473108
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) rs796053099
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) rs745516434
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) rs766555082
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) rs1943085639
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_054012.4(ASS1):c.774-2A>G rs1588496214
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly) rs1555873985
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
Single allele

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