ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia and "likely benign" from any submitter

Minimum review status of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia: Collection method of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 214
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_080759.6(DACH1):c.1722+6C>T rs192675802 0.00741
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala) rs1143675 0.00556
NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val) rs146201109 0.00533
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) rs2307293 0.00496
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218 0.00399
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_022134.3(GAL3ST2):c.29+1G>A rs78620448 0.00390
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu) rs201352230 0.00349
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala) rs75160992 0.00321
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val) rs146277144 0.00285
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068 0.00284
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_152641.4(ARID2):c.1718C>T (p.Thr573Met) rs76994389 0.00270
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) rs140868609 0.00268
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478 0.00233
NM_001143820.2(ETS1):c.617A>G (p.Tyr206Cys) rs142279599 0.00219
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln) rs139366969 0.00215
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_139285.4(GAS2L2):c.1621G>A (p.Val541Ile) rs145313062 0.00182
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln) rs140460765 0.00168
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171 0.00146
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) rs142867197 0.00110
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe) rs183141566 0.00108
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu) rs150601238 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00076
NM_004667.6(HERC2):c.2747-3C>A rs200632307 0.00076
NM_018060.4(IARS2):c.951G>A (p.Lys317=) rs146236436 0.00074
NM_182643.3(DLC1):c.2213C>T (p.Thr738Met) rs149472569 0.00074
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) rs192528655 0.00072
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_004747.4(DLG5):c.3200G>A (p.Arg1067His) rs201354863 0.00059
NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg) rs199564693 0.00059
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu) rs150654627 0.00058
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr) rs139052540 0.00054
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_004963.4(GUCY2C):c.2067T>G (p.Asn689Lys) rs138497004 0.00041
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_013254.4(TBK1):c.964C>T (p.His322Tyr) rs145905497 0.00033
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
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_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_015158.5(KANK1):c.3554-5T>A rs76738278 0.00025
NM_016553.5(NUP62):c.337G>A (p.Gly113Ser) rs200398387 0.00024
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393 0.00024
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) rs201396764 0.00023
NM_003244.4(TGIF1):c.16+1564G>A rs202123354 0.00023
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln) rs201205115 0.00023
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_017760.7(NCAPG2):c.3085G>A (p.Val1029Ile) rs199598836 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947 0.00017
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr) rs181583071 0.00013
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000843.4(GRM6):c.2398G>A (p.Val800Met) rs369642678 0.00011
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_003179.3(SYP):c.868G>T (p.Gly290Trp) rs376222680 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_001080517.3(SETD5):c.2462G>A (p.Cys821Tyr) rs376767548 0.00008
NM_014264.5(PLK4):c.1935+6G>A rs56414190 0.00008
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_001386125.1(OBSCN):c.11282G>A (p.Arg3761His) rs368175234 0.00006
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_014241.4(HACD1):c.143C>T (p.Thr48Ile) rs864309602 0.00006
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg) rs572425083 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile) rs529184143 0.00004
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) rs367658497 0.00003
NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val) rs199570117 0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_001080517.3(SETD5):c.521A>G (p.Lys174Arg) rs375122657 0.00001
NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys) rs761508385 0.00001
NM_004553.6(NDUFS6):c.133-4C>T rs754448417 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_006343.3(MERTK):c.584-5C>T rs747835003 0.00001
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly) rs745327804 0.00001
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys) rs567883079 0.00001
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.982G>A (p.Val328Ile) rs768925824
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys) rs140967677
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr) rs772318314
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del) rs797045268
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly) rs879255405
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys) rs374204240
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_080425.4(GNAS):c.657C>T (p.Pro219=) rs752004692
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690
NM_198904.4(GABRG2):c.107+6A>G rs868452487

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