ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and "uncertain significance" from any submitter

Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 79
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter) rs201419367 0.00024
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_004493.3(HSD17B10):c.347G>A (p.Arg116Gln) rs782357172 0.00010
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000283.4(PDE6B):c.1920+2T>C rs763996159 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) rs75239284
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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