ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "likely pathogenic" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 140
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp) rs34424986 0.00226
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_001931.5(DLAT):c.976-1G>A rs367875541 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp) rs756210458 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000051.4(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3647-1G>A rs587779279
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000249.4(MLH1):c.1039-1G>T
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000533.5(PLP1):c.173A>G (p.Tyr58Cys) rs2074490307
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu) rs771529172
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter) rs1057518798
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.964-1G>T rs138659167
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004646.4(NPHS1):c.1096A>C (p.Ser366Arg) rs386833864
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) rs1694125419
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr) rs767796996
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln) rs387907050
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806

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