ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia and "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: 126
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser) rs138329311 0.00677
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_001508.3(GPR39):c.1132G>A (p.Ala378Thr) rs61735719 0.00640
NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn) rs56048322 0.00600
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_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) rs5029941 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) rs2307293 0.00496
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
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_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_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val) rs146277144 0.00285
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_170606.3(KMT2C):c.2016A>T (p.Glu672Asp) rs114419085 0.00230
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313 0.00198
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
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_007098.4(CLTCL1):c.3874-4C>G rs184612047 0.00157
NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys) rs148373909 0.00153
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_018117.12(WDR11):c.1306A>G (p.Ile436Val) rs34602786 0.00128
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 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_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_145725.3(TRAF3):c.449G>A (p.Arg150His) rs141920055 0.00079
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
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_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_002296.4(LBR):c.367-5T>C rs201626710 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
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_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_015158.5(KANK1):c.3554-5T>A rs76738278 0.00025
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 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_001457.4(FLNB):c.1868A>T (p.Asp623Val) rs145314043 0.00016
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr) rs181583071 0.00013
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 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_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_198904.4(GABRG2):c.632-1212C>T rs587780948 0.00004
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.5(LDLR):c.1706-10G>A
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_001018115.3(FANCD2):c.1278+3_1278+6del rs369823368
NM_001303.4(COX10):c.773T>A (p.Leu258His) rs587780911
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_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_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15]) rs10591869

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