ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 70
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501 0.00003
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro) rs121912195 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) rs1554313639 0.00001
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn) rs2131227936
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs)
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg) rs2151553286
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001130987.2(DYSF):c.1381-2A>G rs786200897
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496

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