ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "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: 143
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_213607.3(DNAAF19):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_003193.5(TBCE):c.100+1G>A rs200356271 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284 0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_002591.4(PCK1):c.961+1G>A rs776767788 0.00002
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) rs779593707 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000330.4(RS1):c.214G>A (p.Glu72Lys) rs104894928 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_002473.6(MYH9):c.2105G>A (p.Arg702His) rs80338827 0.00001
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_012120.3(CD2AP):c.764dup (p.Ser256fs) rs776297606 0.00001
NM_015166.4(MLC1):c.423+1G>A rs752428321 0.00001
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) rs121908359 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000271.5(NPC1):c.181G>T (p.Glu61Ter) rs2059213874
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp) rs1597629882
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001199799.2(ILDR1):c.745del (p.Ser249fs) rs571007078
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001371596.2(MFSD8):c.1350+2T>C rs1736332381
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_004333.6(BRAF):c.755G>C (p.Arg252Pro) rs1325951163
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_031307.4(PUS3):c.366_367del (p.Ala123fs) rs1944570170
NM_032040.5(CCDC8):c.817_829del (p.Ser273fs) rs774464372
NM_033380.3(COL4A5):c.574G>A (p.Gly192Arg) rs104886060
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) rs121908406
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu) rs202126574
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) rs1665282478

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